Pósters Errores Innatos del Metabolismo

Póster DestacadoDestacado

Orden Título Autores País Tema Acceder al Abstract
P-001 TRANSITION FROM CHILD TO ADULT IN PATIENTS WITH INBORN ERRORS OF METABOLISM (IEM): OUR EXPERIENCE WITH PATIENTS DERIVED FROM PEDIATRIC HOSPITAL Presner N
Rivera S
Frechtel G
Argentina Adult Inborn errors of metabolism pdf icon
P-002 METABOLIC CHARACTERIZATION OF THE POPULATION WHO ASSIST SOME DISABILITY ATTENTION CENTERS OF THE CITY OF CALI AND AREAS OF INFLUENCE Moreno LJ
Arturo-Terranova D
Satizabal JM
Colombia Adult Inborn errors of metabolism pdf icon
P-003

Destacado

SCREENING FOR 9 COMMON JEWISH GENETIC DISEASES IN 441 ASHKENAZI JEWS IN ARGENTINA Dragosky M
Klurfan M
Repetto L
Marqués JM
Torres A
Argentina Adult Inborn errors of metabolism pdf icon
P-004 NIEMANN-PICK TYPE C DISEASE IN ADULTS: UNRAVELING DIFFERENT CLINICAL PHENOTYPES Fola F
Mussi GD
Almeida ML
Carneiro ZA
Fonseca JHR
Vagnini L
Lourenco CM
Brasil Adult Inborn errors of metabolism pdf icon
P-005 CLINICAL PRESENTATION OF GLYCOGEN STORAGE DISEASE IN A REFERENCE CENTER IN SÃO PAULO, BRAZIL. Gomes JVB
Curiati MA
Oliveira RB
Frangipani BJ
Mendes CSC
Rand MH
Martins AM
Brasil Carbohydrate disorders pdf icon
P-006

Destacado

HEREDITARY FRUCTOSE INTOLERANCE: NGS APPROACH TO IMPROVE AND CONFIRM THE GENETIC DIAGNOSIS OF BRAZILIAN PATIENTS Pinheiro FC
Sperb-Ludwig F
De Souza CFM
De Lima AF
Pedroso MLA
Fagundes EDT
Artigalás O
Schwartz IVD
Brasil Carbohydrate disorders pdf icon
P-007 REPORT OF TWO CASES OF MUTATION IN THE PHOSPHORYLASE KINASE (PHKA2) GENE IN CARTAGENA DE INDIAS, COLOMBIA Alvear CC
Moneriz CE
Pérez B
Colombia Carbohydrate disorders pdf icon
P-008 LONG TERM FOLLOW UP OF LIVER TRANSPLANTATION IN PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE I IN A TERTIARY HOSPITAL IN BUENOS AIRES, ARGENTINA Bindi V
Martinez M
Eiroa H
Argentina Carbohydrate disorders pdf icon
P-009

Destacado

HEPATIC GLYCOGEN STORAGE DISEASES ARE ASSOCIATED TO MICROBIAL DYSBIOSIS Colonetti K
dos Santos BB
Nalin T
de Souza CFM
Dobbler PT
Schwartz IVD
Roesch LFW
Brasil Carbohydrate disorders pdf icon
P-010 A CLINICAL TRIAL EVALUATING THE USE OF UNCOOKED BRAZILIAN SWEET POLVILHO VERSUS UNCOOKED CORNSTARCH IN GSD IA: PRELIMINARY RESULTS Oliveira BM
Monteiro VCL
dos Santos BB
Refosco LF
Derks TGJ
Nalin T
Souza CFM
Schwartz IVD
Brasil Carbohydrate disorders pdf icon
P-011 GLYCOGEN STORAGE DISEASE TYPE XI WITH AN UNREPORTED VARIANT IN SLC2A2: CASE REPORT Beatriz E De la Fuente-Cortez
Shadai Chavez Lopez
Ana Sofia Rios Infante
Laura E Martinez Garza
Leticia Belmont Martinez
México Carbohydrate disorders pdf icon
P-012 PARENTAL PERCEPTION OF THE USEFULLNESS OF EDUCATIONAL ACTIVITIES TO ENCOURAGE ADHERENCE TO PROTEIN/AMINOACID- RESTRICTED DIETS FOR PATIENTS WITH INBORN METABOLIC DISEASE AND THEIR FAMILIES Vinuesa MV
Lavorgna SL
Levy L
Blasi SN
Argentina Dietetics and nutrition pdf icon
P-013 LIVER TRANSPLANT IN PEDIATRIC PATIENTS WITH INBORN ERRORS OF METABOLISM: IMPACT ON NUTRITIONAL TREATMENT Levy L
Lavorgna SL
Cresta AS
Carmona NM
Argentina Dietetics and nutrition pdf icon
P-014 EDUCATIONAL PARTICIPATORY AND CULINARY ACTIVITY PROGRAM AIMED AT PATIENTS WITH INBORN METABOLIC DISEASES AND THEIR FAMILIES: 7 YEARS OF IMPLEMENTATION Lavorgna SL
Vinuesa MV
Levy L
Cresta AS
Carmona NM
Blasi SN
Argentina Dietetics and nutrition pdf icon
P-015 NUTRITIONAL TREATMENT AND FOLLOW UP OF 2 NEONATAL CASES WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY Lavorgna SL
Vinuesa MV
Levy L
Cresta AS
Carmona NM
Bindi V
Argentina Dietetics and nutrition pdf icon
P-016 CURRENT STATUS OF KETOGENIC DIET THERAPY IN PATIENTS WITH GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME (GLUT1DS) IN ARGENTINA Armeno M
Verini A
Eiroa H
Argentina Dietetics and nutrition pdf icon
P-017 EVALUATION BY ANTHROPOMETRY OF THE NUTRITIONAL STATE OF PATIENTS WITH INBORN ERRORS OF METABOLISM IN PROTEIN-CONTROLLED DIETS Rosón MM
Kleppe S
Onna N
Roa AC
Rodota L
Argentina Dietetics and nutrition pdf icon
P-018 COLOMBIAN PATIENTS WITH NEUROMETABOLIC/NEUROGENETIC DISEASES TREATED WITH KETOGENIC THERAPIES Ramírez S
Muñoz N
Puerta A
Correa LN
Colombia Dietetics and nutrition pdf icon
P-019 KETOGENIC DIET IN MITOCHONDRIALDISEASE: EFFICACY AND TOLERABILITY IN TWO PATIENTS Loos M
Armeno M
Aráoz V
Monges S
Chertkoff L
Caraballo RH
Argentina Dietetics and nutrition pdf icon
P-020

Destacado

CLINICAL, TREATMENT AND OUTCOME FEATURES IN 7 ARGENTINEAN PATIENTS WITH VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY. Armani GR
Garcia J
Eiroa HD
Argentina Disorders of fatty acid oxidation and ketone body metabolism pdf icon
P-021

Destacado

A CASE SERIES OF FATTY ACID OXIDATION DISORDERS FROM A TERTIARY TEACHING HOSPITAL IN SOUTHERN BRAZIL Oliveira BM
Boer APK
Tenorio RB
Andrade AKM
Refosco LF
Souza CFM
Schwartz IVD
Brasil Disorders of fatty acid oxidation and ketone body metabolism pdf icon
P-022 REYE-LIKE SYNDROME TRIGGERED BY SYNCYTIAL VIRUS INFECTION IN TWO PATIENTS WITH FATTY ACID OXIDATION DISORDERS Munera L
Mesa SC
Ruiz P
Santamaría A
Henao AI
Molina S
Ortiz C
Aristizabal BH
Restrepo F
Baquero C
Colombia Disorders of fatty acid oxidation and ketone body metabolism pdf icon
P-023 INFANT MORTALITY ATTRIBUTABLE TO INBORN ERRORS OF METABOLISM ASSOCIATED WITH SUDDEN DEATH IN INFANCY: A BRAZILIAN EPIDEMIOLOGICAL STUDY De Bitencourt FH
Schwartz IVD
Vianna FSL
Brasil Disorders of fatty acid oxidation and ketone body metabolism pdf icon
P-024 NEUROVISCERAL PAIN IN ERYTHROPOIETIC PROTOPORPHYRIA-RELATED HEPATOPATHY: REPORT OF A BRAZILIAN CASE Silva TO
Souza CFM
Poswar FO
Michelin-Tirelli K
Burin MG
Vieira SMG
Schwartz IVD
Brasil Disorders of purines, pyrimidines, nucleic acids and porphyrias pdf icon
P-025 CLINICAL MANIFESTATIONS OF COBALAMIN DEFICIENCY (CD) IN CHILDREN Torres S
Mennickent
González JE
Mabe P
Chile Disorders of vitamins, cofactors and trace elements pdf icon
P-026 HOMOCYSTEINE AS AN ACCESSIBLE DIAGNOSTIC TOOL FOR TREATABLE DISORDERS OF COBALAMIN METABOLISM Kleppe S
Onna N
Roa AC
Colimodio MJ
Uicich R
Furci A
Maxit C
Argentina Disorders of vitamins, cofactors and trace elements pdf icon
P-027

Destacado

ISOELETRIC FOCUSIN OF SERUN TRANSFERRIN FOR INVESTIGATION OF CONGENITAL DISEASE OF GLYCOSILATION: ANALYSIS OF THE EXPERIENCE OF TEN YEARS OF A BRAZILIAN REFERENCE CENTER Magalhães APS
Burin
de Souza CFM
de Bitencourt FH
Sebastião FM
Silva TO
e Vairo FP
Schwartz IVD
Brasil Glycosylation disorders/CDG, protein modification disorders pdf icon
P-028 GENETIC VARIANTS IDENTIFIED BY EXOMIC ANALYSIS IN CONGENITAL DISORDERS OF GLYCOSYLATION Papazoglu GM
Vega A
Pereyra M
Spécola N
Dodelson de Kremer R
Pérez B
Asteggiano CG
Argentina Glycosylation disorders/CDG, protein modification disorders pdf icon
P-029 WEST SYNDROME BY VARIANT IN ALG13 GENE ASSOCIATED WITH CDGIS WITH NORMAL PATTERN OF GLYCOSYLATED SERUM TRANSFERRIN ISOFORMS. Villanueva MM
Massaro M
Durand C
Atanacio N
Sokn S
Schenone AB
Argentina Glycosylation disorders/CDG, protein modification disorders pdf icon
P-030 CLINICAL UTILITY OF CONGENITAL DISORDER OF GLYCOSYLATION GENE PANEL IN PATIENT WITH REFRACTORY EPILEPSY Roa AC
Maxit C
Denzler I
Onna N
Asteggiano CG
Kleppe S
Argentina Glycosylation disorders/CDG, protein modification disorders pdf icon
P-031 THREE CASES OF PMM2-CDG: CLINICAL, BIOCHEMICAL, NEURORADIOLOGICAL AND MUTATIONS, DESCRIPTION. Cerisola A
González G
Salazar L
Ferran C
Audicio P
Méndez S
Lemes A
Uruguay Glycosylation disorders/CDG, protein modification disorders pdf icon
P-032 NOVEL EXT2 PATHOGENIC MUTATION IN ARGENTINIAN FAMILY WITH HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS Valdez RM
Lotersztein V
Asteggiano CG
Argentina Glycosylation disorders/CDG, protein modification disorders pdf icon
P-033

Destacado

ANALYSIS OF GLYCOSAMINOGLYCANS BY TANDEM MASS SPECTROMETRY: REPORT FROM THE MPS BRAZIL NETWORK Kubaski F
Trapp FB
Burin MG
Michelin-Tirelli K
Mason RW
Tomatsu S
Giugliani R
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-034 QUALITY OF LIFE IN CAREGIVERS OF CHILDREN WITH MUCOPOLYSACCHARIDOSIS Valle DA
Santos MLSF
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-035 NUTRITIONAL STATUS IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE I AND II. Silva JAO
MonteiroVCL
Oliveira RB
Frangipani BJ
Martins AM
D'Almeida V
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-036 OTORHINOLARYNGOLOGICAL FINDINGS OF PATIENTS OF THE COLOMBIAN SOUTHWEST WITH CLINICAL, ENZYMATIC AND MOLECULAR DIAGNOSIS OF MUCOPOLISACARIDOSIS II, IV-A AND VI. Moreno LJ
Arturo-Terranova D
Satizabal JM
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-037 OPHTHALMOLOGICAL MANIFESTATIONS OF PATIENTS OF THE COLOMBIAN SOUTHWESTERN WITH CLINICAL, ENZYMATIC AND MOLECULAR DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS II, IV-A AND VI. Moreno LJ
Arturo-Terranova D
Satizabal JM
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-038

Destacado

EVALUATION OF EZETIMIBE AND PRANLUKAST AS PHARMACOLOGICAL CHAPERONES FOR MORQUIO A Alméciga-Diaz CJ
Hidalgo OA
Olarte-Avellaneda S
Rodríguez-López A
Pimentel N
Gorshkov K
Li R
Zheng W
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-039

Destacado

IN VITRO EVALUATION OF BROMOCRIPTINE AS A POTENTIAL PHARMACOLOGICAL CHAPERONE FOR MORQUIO A DISEASE Cepeda J
Olarte-Avellaneda S
Salazar LM
Alméciga-Díaz CJ
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-040 MUCOPOLYSACCHARIDOSES TYPE IIID: REPORT OF THE FIRST PATIENT IDENTIFIED BY THE MPS BRAZIL NETWORK Miguel D
Kubaski F
Malaga DR
Brusius-Facchin AC
Trapp FB
de Mari JF
Burin MG
Michelin-Tirelli K
Tomatsu S
Giugliani R
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-041 NOVEL MUTATION IN NAGLU GENE CAUSES SANFILIPPO SYNDROME TYPE B IN A CUBAN PATIENT. Acosta T
Chiong CM
Pérez B
Pérez Cerdá C
de la Fuente SM
Vega AI
Chiong M
Miranda M
Ugarte M
Cuba Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-042 SCREENING OF MUTATION C.1360 C> T IN THE HGSNAT GENE IN TUNJA, BOYACÁ - COLOMBIA. Bernal IT
Velasco HM
Ahumada MC
Sánchez Y
Cruz LV
Usaquén W
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-043 UNRAVELING CLINICAL PHENOTYPES IN SANFILIPPO SYNDROME TYPES A AND B: CLINICAL, BIOCHEMICAL AND NEUROIMAGING FINDINGS IN A COHORT OF BRAZILIAN PATIENTS Sahão JB
Borges JP
Cazotto KR
Carneiro ZA
Vagnini L
Oliveira MCFA
Lourenco
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-044 MORPHOLOGICAL FINDINGS IN BLOOD SMEARS EXAMINATION OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VII (MPSVII) Sokn S
Frabasil J
Durand C
Schenone AB
Argentina Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-045

Destacado

OXIDATIVE STRESS IN CUBAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPES I, II, III AND IV WITHOUT ENZYME REPLACEMENT THERAPY. Acosta T
Riverón G
Marín LC
Martínez L
Huertas G
Castillo Y
Martínez O
García A
Cuba Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-046 MUCOPOLYSACCHARIDOSIS: IS LESS DIAGNOSED THAN BELIEVED? Flores RC
Gimenez M
Durand C
Schenone AB
Argentina Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-047 COEXISTENCE OF MUCOPOLYSACCHARIDOSIS TYPE IVA AND NEUROFIBROMATOSIS TYPE 1 IN A CHILD WITH A SEVERE PHENOTYPE Orozco-Hernandez Juan Pablo
Silvestre-Avendaño Jhon Jairo
Bermudez-Giraldo Mary Luz
Porras-Hurtado Gloria Liliana
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-048 STANDARDIZATION OF A HORIZONTAL ELECTROPHORESIS METHOD FOR THE CHARACTERIZATION OF SERUM PROTEINS PRIOR TO DETERMINATION OF GAG'S IN MUCOPOLYSACCHARIDOSIS PATIENTS Aguilar AW
Cueva F
Rivilla C
Ecuador Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-049 BETA-GLUCORONIDASE QUANTIFICATION IN DBS Guevara JM
Echeverri OY
Calvo AM
Gomez EJ
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-050 REPORT OF A MPS TYPE VII PATIENT INVESTIGATED WITH TANDEM MASS SPECTROMETRY AND TARGETED NEXT GENERATION SEQUENCING Málaga DR
Pimentel H
Calvão M
Kubaski F
Scholz AP
Brusius-Facchin AC
Trapp FB
Burin MG
Giugliani R
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-051

Destacado

EVALUATION OF PATIENTS WITH MUCOPOLISSACARIDOSE TYPE 1 WHO CARRIED OUT TRANSPLANTATION OF HEMATOPOIETIC STEM CELLS IN BRAZIL Boer AP
Souza CF
Kim C
Horovitz D
Barth A
Bonfim C
Lourenço CM
Trapp FB
Giugliani R
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-052 LEUCOCYTE ALPHA-N-ACETYL-GLUCOSAMINIDASE ANALYSIS IN COLOMBIAN CONTROL POPULATION AND AFFECTED PATIENTS WITH TYPE B SAN FILIPPO SYNDROME Uribe A Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-053 HEALTH-RELATED QUALITY OF LIFE: A FOLLOW-UP TO ENZYMATIC REPLACEMENT THERAPY IN ADULT PATIENTS WITH MUCOPOLYSACCHARIDOSIS Porras- Hurtado GL
Estrada JM
Salazar HA
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-054 EYE PATHOLOGY IN MUCOPOLYSACCHARIDOSIS TYPE I AND EFFECTS OF ENZYME REPLACEMENT THERAPY Gonzalez EA
Visioli F
Pasqualim G
Souza CFM
Giugliani R
Matte U
Baldo G
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-055 SELECTIVE RETROSPECTIVE SCREENING DETECTS FIVE NEW CASES OF MUCOPOLYSACCHARIDOSIS TYPE VII Frabasil J
Durand C
Sokn S
Gaggioli D
Carozza P
Carabajal R
Atanacio N
Politei J
Schenone AB
Argentina Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-056 CLINICAL AND BIOCHEMICAL CHARACTERISTICS OF MUCOPOLYSACCHARIDOSIS TYPE IV A (MORQUIO SYNDROME A) IN A CHILEAN REFERENCE CENTER. Cárdenas JM
Vergara D
Troncoso LM
Ruiz IV
Balut FP
Silva S
Guerra P
Mesa JT
Pinto F
Valdes I
Chile Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-057 “GROWING PAINS”: THE CHALLENGES OF GETTING OLDER WITH MUCOPOLYSACCHARIDOSES Mussi GD
Fola F
Bissoli L
Carneiro ZA
Fonseca JHR
Vagnini L
Lourenco CM
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-058 HEARING LOSS IN MUCOPOLYSACCHARIDOSIS IVA IS GENOTYPE DEPENDENT Porras- Hurtado  GL
Bejarano A
Estrada JM
Colombia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-059 DEMOGRAPHIC DISTRIBUTION OF MUCOPOLYSACCHARIDOSIS IN BAHIA, BRAZIL: A CROSS-SECTIONAL STUDY- 2019 Miguel DSCG
Alves TN
Mendes LA
Gomes ILSG
Rios AFA
Pereira ASS
Cardeal AM
Embiruçu EKE
Brasil Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-060 SANFILIPO DISEASE IN A BOLIVIAN PATIENT, CARRIER OF UNCERTAIN SIGNIFICANCE VARIANTS FOR OTHER GENETIC PATHOLOGIES Luna B
Taboada G
Burgos L
Contreras D
Paz R
Bolivia Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-061 PITFALLS IN THE RECOGNITION OF COGNITIVE PHENOTYPE IN PATIENTS WITH HUNTER SYNDROME (MPSII) Amartino H
Richaudeau A
Grassi M
Donato A
Argentina Lysosomal disorders: MPS, oligosaccharidoses pdf icon
P-062 LABORATORY OF DISEASES LYSOSOMAL AS NATIONAL REFERENCE CENTER. THE CHALLENGE OF THE RELATIONSHIP WITH THE MINISTRY OF HEALTH. Valiente AG
Letelier MA
Cornejo VD
Cabello JF
Chile Lysosomal disorders: others pdf icon
P-063 DIFFERENTIAL NATURAL HISTORY OF LATE INFANTILE CLN6 AND CLN2 DISEASES OF NEURONAL CEROID LIPOFUSCINOSES Pesaola F
Cismondi IA
Kohan R
Becerra A
Leyes CA
Venier AC
Guelbert N
Noher de Halac I
Argentina Lysosomal disorders: others pdf icon
P-064

Destacado

BIOCHEMICAL DIAGNOSIS OF NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 IN DRIED BLOOD SPOTS: 28 CASES IN TWO YEAR OF EXPERIENCE Frabasil J
Durand C
Sokn S
Gaggioli D
Carozza P
Carabajal R
Atanacio N
Schenone AB
Argentina Lysosomal disorders: others pdf icon
P-065 INCIDENTAL DETECTION OF ARGENTINE FAMILY WITH GLA MUTATION FOR FABRY DISEASE THROUGH PRECONCEPTIONAL TEST BY NEXT GENERATION SEQUENCING MULTIGENE PANEL Valdez RM
Lotersztein V
Reisin RC
Klufman M
Rozenfeld P
Argentina Lysosomal disorders: others pdf icon
P-066 GAUCHER DISEASE TYPE 1 AND CANCER: A STUDY OF A COHORT OF PATIENTS FROM ARGENTINA Dragosky M
Drelichman G
Fernandez Escobar N
Kisinovsky I
Barazutti L
Bietti J
Cuello F
Fernandez G
Marquez M
Sanchez Lucero A
Argentina Lysosomal disorders: others pdf icon
P-067 POMPE DISEASE IN CUBA. REPORT OF TWO CASES IN A FAMILY Larrinaga LE
Miranda M
Charón DM
Acosta T
Valdes Y
y Llamos S
Cuba Lysosomal disorders: others pdf icon
P-068 MUCOLIPIDOSIS II / III. ENZYMATIC DIAGNOSIS IN CUBA. PERIOD 2014-2018 Miranda M
Larrinaga L
Acosta T
Charón DM
García Y
Valdés Y
Cuba Lysosomal disorders: others pdf icon
P-069 NEURONAL CEROID-LIPOFUSCINOSES IN CHILDREN: IMPACT OF A NEXT-GENERATION SEQUENCING PANEL FOR DIAGNOSING Veneruzzo G
Loos M
Juanes M
Araoz V
Pujana M
Reyes-Valenzuela G
Alonso C
Chertkoff L
Caraballo R
Argentina Lysosomal disorders: others pdf icon
P-070 ATYPICAL PHENOTYPE OF NEURONAL CEROID LIPOFUSCINOSIS TYPE 2: CASE SERIES OF SIX PATIENTS FROM ARGENTINA Durand C
Frabasil J
Atanacio N
Villanueva MM
De Pinho S
Julian E
Masllorens F
Schteinschnaider A
Specola N
Schenone AB
Argentina Lysosomal disorders: others pdf icon
P-071

Destacado

BIOCHEMICAL DIAGNOSIS OF NCL2 DIAGNOSIS. EXPERIENCE WITH THREE BIOLOGICAL SAMPLES Guevara JM
Echeverri OY
Calvo AM
Colombia Lysosomal disorders: others pdf icon
P-072

Destacado

TARGETED NEXT-GENERATION SEQUENCING: A POWERFUL TOOL FOR TYPE 2 NEURONAL CEROID LIPOFUSCINOSIS DIAGNOSIS CONFIRMATION Málaga DR
Brusius-Facchin AC
Scholz AP
Trapp FB
Burin MG
Segal S
Giugliani R
Brasil Lysosomal disorders: others pdf icon
P-073 ALPHA-GLUCOSIDASE ENZYMATIC ASSAY USING NATURAL SUBSTRATE. OUR PATHWAY TO A MORE RELIABLE TEST FOR POMPE DISEASE DIAGNOSIS Uribe A
Gamba J
Moreno P
Colombia Lysosomal disorders: others pdf icon
P-074 MILD LATE INFANTILE MULTIPLE SULFATASE DEFICIENCY: CLINICAL DESCRIPTION AND PRELIMINARY FUNCTIONAL ANALYSIS OF TWO BRAZILIAN CASES Silva TO
Souza CFM
Brusius-Facchin AC
Michelin-Tirelli K
Burin MG
Giugliani R
Schlotawa L
Dierks T
Radhakrishnan K
Schwartz IVD
Brasil Lysosomal disorders: others pdf icon
P-075 NEURONAL CEROID-LIPOFUSCINOSES TYPE 8 (CLN8), A CASE REPORT AtanacioN
Vittar Lucero Y
Villanueva MM
Spinsanti P
Caprarella D
Rodriguez Z
Binelli A
Argentina Lysosomal disorders: others pdf icon
P-076 DIAGNOSTIC CHALLENGE OF DEPOSIT DISEASE IN CASE REPORT Monteiro LSA
Fernandes BF
Bernardes TM
Carvalho MV
Benevides GN
Bastos KLM
Brasil Lysosomal disorders: others pdf icon
P-077

Destacado

GAUCHER'S DISEASE PATIENTS PROFILE IN A REFERENCE SERVICE OF THE STATE OF AMAZONAS – BRAZIL Albuquerque CCMX
Silva LCP
Prazeres VMG
Gentil Filho AC
Benacon GS
Melo NS
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-078 SIMPLE TOOLS FOR FABRY DISEASE PHENOTYPE IDENTIFICATION. Politei JM
Durand C
Frabasil J
Velasques Rivas D
Maccarone M
Sokn S
Schenone AB
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-079

Destacado

BUILDING BRIDGES IN RARE METABOLIC DISEASES: THE INTERNATIONAL NIEMANN-PICK DISEASES REGISTRY (INPDR) Lourenco CM
Imrie J
Patterson M
Green J
Mathieson T
Bolton S
Giugliani R
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-080 IS LYSO-GL1 AN USEFUL BIOMARKER FOR GAUCHER DISEASE EVOLUTION AND SKELETELAL INVOLVEMENT? EXPERIENCE OF A COHORT OF 197 ARGENTINIENAN PATIENTS. Drelichman GI
Soberon BC
Fernandez Escobar N
Ruan J
Belinsky B
Schenone A
Frabasil J
Detoni D
Larroude M
Mistry P
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-081 IS CHITORIOSIDASE AN USEFUL BIOMARKER FOR DIAGNOSIS AND TREATMENT MONITORING OF GAUCHER DISEASE? EXPERIENCE IN A COHORT OF 197 ARGENTINEAN PATIENTS Drelichman G
Soberon B
Fernandez Escobar N
Ruan J
Belinsky B
Schenone A
Detoni D
Larroude M
Aguilar G
Mistry P
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-082

Destacado

N370S/RECNCIL GENOTYPE-PHENOTYPE CORRELATION IN A COHORT OF 197 ARGENTINEAN GAUCHER DISEASE PATIENTS. Drelichman G
Fernandez Escobar N
Soberon B
Ruan J
Belinsky B
Schenone A
Christmann A
Larroude M
Aguilar G
Mistry P
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-083

Destacado

ELIGLUSTAT FOR ADULT PATIENTS WITH GAUCHER DISEASE TYPE 1: EFFECTIVENESS AFTER 6 YEARS OF TREATMENT EVALUATED IN THREE ARGENTINEAN CENTERS Drelichman G
Fernandez Escobar N
Soberon B
Dragosky M
Schenone A
Frabasil J
Christmann A
Larroude M
Aguilar G
Watman N
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-084 DIAGNOSIS OF HEXOSAMINIDASE A DEFICIENCY THROUGH WHOLE EXOME SEQUENCING: REPORT OF TWO NORTHERN BRAZILIAN CASES Santos ES
Silva WS
Duarte SRS
Santana GCS
Macêdo JMVC
Garcia SZ
Andrade KESN
Souza BLN
Santos JS
Barbosa AF
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-085 THE HFE1 P.HIS63ASP (RS1799945) MUTATION MAY ACT AS A MODIFIER IN GAUCHER DISEASE. Starosta RT
Porto SB
Dornelles AD
Poswar F
Siebert M
Vairo FP
Schwartz IVD
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-086 NIEMANN PICK DISEASE: CLINICAL, BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF ARGENTINEAN PATIENTS AND THE REPORT OF A NOVEL MUTATION. Martínez LD
Giner-Ayala A
Oropeza G
Grinberg D
Dodelson de Kremer R
Argentina Lysosomal disorders: sphingolipidoses pdf icon
P-087 ENZYMATIC ALPHA-GALACTOSIDASE A (GLA) AND BETA-GLUCURONIDASE (GUSB) RELATION USED TO SUPPORT DIAGNOSTIC IDENTIFICATION IN WOMEN WITH FABRY DISEASE. Uribe A
Moreno P
Benavides J
Gamba J
Colombia Lysosomal disorders: sphingolipidoses pdf icon
P-088 SEVERE LIVER AND LUNG INVOLVEMENT WITH NO EVIDENCE OF NEUROLOGICAL IMPAIRMENT IN AN INFANT WITH ACID SPHINGOMYELINASE DEFICIENCY AND NOVEL VARIANT IN SMPD1 GENE Candice Carolina Caetano Vieiralves
Iana Araújo
Karina de Almeida Vieira Antunes
Paloma Estefanne Barbosa dos Santos
Gabriel Nuncio Benevides
Caio Robledo Quaio
Karina Lucio Medeiros
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-089 PERIPHERAL NERVOUS SYSTEM DISORDER IN NIEMANN PICK TYPE C DISEASE Gomes ILS
Brito PC
Andrade D
Santana JS
Miguel DSCG
Embiruçu EKE
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-090 SLEEP DISORDERS CHARACTERIZATION IN KRABBE DISEASE PATIENTS’ FROM THE REFERENCE CENTER OF BAHIA, BRAZIL Salles Cristina
Pereira ASS
Gomes ILS
Paim PVSL
Embiruçu EKE
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-091 DEGLUTITION AND LANGUAGE ALTERATIONS IN KRABBE'S DISEASE: A CASE REPORT OF TWO TWIN SISTERS Santos MS
Santana JS
Steinberg C
Lorentz AL
Gomes ILS
Embiruçu EK
Brasil Lysosomal disorders: sphingolipidoses pdf icon
P-092 TREATMENT OF LATE- INFANTILE NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 DISEASE (CLN2) WITH ENZYME - REPLACEMENT THERAPY WITH INTRAVENTRICULAR INFUSION OF CERLIPONASE ALFA: REPORT OF TWO CASES Naranjo-Florez RA
Ramírez-Sierra CL
Farfán-Albarracín JD
Pelaez-Rincón OF
Colombia Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-093 SUBSTRATE REDUCTION THERAPY IN FIBROBLASTS OF MUCOLIPIDOSIS II AND III PATIENTS Fernanda Sperb Ludwig
Nataniel F Ludwig
Renata Voltolini Velho
Ida Vanessa Doederlein Schwartz
Brasil Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-094 TPP1 ACTIVITY IN CEREBROSPINAL FLUID OF FOUR CLN2 AFFECTED CHILDREN UNDER INTRATHECAL CERLIPONASE ALPHA THERAPY Venier AC
Leyes CA
Guelbert N
Cismondi IA
Becerra A
Noher de Halac I
Pesaola F
Argentina Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-095

Destacado

A SYSTEMATIC LITERATURE REVIEW OF ENZYME REPLACEMENT THERAPY IN EARLY-ONSET POMPE DISEASE Dornelles AD
Krug B
Rizzon L
Gertsenchtein GIPS
Kisaki WOT
Schwartz IVD
Brasil Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-096 CRIM-NEGATIVE CLASSIC INFANTILE POMPE DISEASE PATIENT ON ERT SINCE 40 DAYS OF AGE Zabala C
Cabrera G
Cabrera A
Lemes A
Uruguay Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-097 OUTCOMES OF A CLN2 PATIENT TREATED EARLY WITH CEREBROVENTRICULAR ENZYME REPLACEMENT THERAPY Atanacio N
Aparo V
Villanueva MM
Javier M
Nakab A
Dericco C
Durand C
Guelbert N
Binelli A
Yañez A
Argentina Lysosomal disorders: treatment, enzyme replacement therapy pdf icon
P-098 ATYPICAL PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDHC) DUE TO PDHA1 GENE DEFECT, PRESENTING AS CHARCOT-MARIE-TOOTH DISEASE (CMT). Chapel-Crespo C
Bressi R
Chang R
Steenari M
Brown J
Abdenur JE
Estados Unidos Miscellaneous pdf icon
P-099 ROLE OF SOCIAL WORK IN THE FOLLOW-UP AND INTERVENTION OF PATIENTS WITH INBORN ERRORS OF METABOLISM, INTA, UNIVERSITY OF CHILE Palma N
De la Parra A
Castro G
Cabello JF
Hamilton V
Peñaloza F
Arias C
Peredo P
Cornejo V
Chile Miscellaneous pdf icon
P-100

Destacado

INBORN ERRORS OF METABOLISM (IEM) IN TELEMEDICINE: EXPERIENCE AT GARRAHAN HOSPITAL. Leguizamón MV
Savignano MC
Eiroa HD
Argentina Miscellaneous pdf icon
P-101 HIGH-COST DRUG LAW IN CHILE (20,850). IMPACT ON THE INBORN ERRORS OF METABOLISM. Cabello JF
Arias C
Medina MF
Valiente A
Chile Miscellaneous pdf icon
P-102 IEM WITH GENETIC CO EXISTENT CONDITION. OUR EXPERIENCE WITH PKU AND OTC Zabala C
Castro M
Fernández L
Cabrera A
González MF
Machado M
Segobia B
González V
Lemes A
Uruguay Miscellaneous pdf icon
P-103 DYSTONIA TREATMENT IN PATIENTS WITH PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION (PKAN) Troncoso LM
Vera JC
Muñoz DA
Naranjo VA
Hidalgo MJ
Ruiz IV
Sáez VI
Chile Miscellaneous pdf icon
P-104 THE USE OF MOLECULAR ANALYSIS FOR THE CONFIRMATION AND THE THERAPEUTIC ORIENTATION OF METABOLIC FINDINGS IN INBORN ERRORS OF METABOLISM Micheletti C
Virmond LA
Oliveira MG
Silva MFB
Sobreira-Filho J
Cavole TR
Chen K
Cupertino-Alencar DO
Lima CFF
Fonseca AA
Brasil Miscellaneous pdf icon
P-105 PRESENTATION OF A HEREDOGRAM OF POSSIBLE MITOCHONDRIAL MYOPATHY ACCOMPANYING FOUR GENERATIONS IN A FAMILY IN AMAZONAS STATE, BRAZIL Prazeres VMG
Carmo JC
Carvalho NDM
Fantin C
Dantas ICA
Mendonça ALT
Bernardino MRA
Brasil Mitochondrial disorders: mtDNA pdf icon
P-106 DEVELOPMENTAL DELAY-HYPOTONIA-THROMBOCYTOPENIA: SUSPECTED FROM MITOCHONDRIAL DISEASE DUE TO HETEROPLASMIC VARIANT ON MTCYB GENE Beltrán OI
Basto RS
Garzón C
Colombia Mitochondrial disorders: mtDNA pdf icon
P-107 SLEEP DISORDER IN AN INDIVIDUAL WITH DEFICIENCY OF CYTOCHROME C OXIDASE 15: A CASE REPORT Salles C
Gomes ILS
Embiruçu EKE
Brasil Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle pdf icon
P-108 NOVEL ISCA2 MUTATION IN AN ARGENTINIAN PATIENT WITH SEVERE MULTIPLE MITOCHONDRIAL DYSFUNCTION SYNDROME-4 Masotto B
Bevilaqua F
De Victor J
Solari A
Argentina Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle pdf icon
P-109 LEIGH SYNDROME AS A MILD PRESENTATION DUE TO A RARE COMPOUND HETEROZYGOUS VARIANTS IN NDUFAF6 GENE. Beltrán OI
Patiño JA
Garzón C
Colombia Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle pdf icon
P-110 AADC DEFICIENCY IN BRAZIL: CLINICAL AND BIOCHEMICAL FINDINGS OF A RARE NEUROMETABOLIC DISORDER Cardoso JMG
Ventureli KA
Santos RC
Fonseca JHR
Vagnini L
Franco JFS
Lourenco CM
Brasil Neurotransmitter and creatine related disorders pdf icon
P-111 CASE SERIES OF PEDIATRIC PATIENTS WITH DEFICIT OF CEREBRAL CREATINE SECONDARY TO GUANIDINOACETATE METHYLTRANSFERASE (GAMT) DEFICIENCY IN ANTIOQUIA AND SANTANDER, COLOMBIA Castro DL
Vélez MC
Colombia Neurotransmitter and creatine related disorders pdf icon
P-112 GLUCOSE TRANSPORTER TYPE 1 (GLUT1) DEFICIENCY SYNDROME: DIAGNOSIS AND NUTRITIONAL TREATMENT WITH KETOGENIC DIET IN 8 CHILEAN CASES Cornejo V
Baeza C
De la Parra A
Castiglioni C
Suarez B
Ríos L
Cuevas M
LeRoy C
Pérez C
Cabello JF
Chile Neurotransmitter and creatine related disorders pdf icon
P-113 IMPAIRED CHOLESTEROL BIOSYNTHESIS CAUSED BY BIALLELIC MUTATIONS IN CYP51A RESEMBLES GALACTOSEMIA  Garcia-Acero M
Acosta J
Colombia New metabolic disease groups pdf icon
P-114 TWO GENETIC VARIANTS RELATED IN THE CLINICAL HETEROGENEITY OF A PEDIATRIC PATIENT Moreno LJ
Arturo-Terranova D
Satizabal JM
Colombia New metabolic disease groups pdf icon
P-115 VERIFICATION OF THE REFERENCE INTERVAL FOR THE DETERMINATION OF ESSENTIAL FATTY ACIDS IN BLOOD CesariN
Sánchez CamposS
NarettoA
OteroG
MalmoriaC
Argentina Novel diagnostic/laboratory methods pdf icon
P-116 NITISINONE DETECTION BY LCMSMS IN DRIED BLOOD SPOT AND PLASMA SAMPLES IN CHILEAN TYROSINEMIA 1 PATIENTS IN FOLLOW UP. VALIDATION SAMPLE LEVELS WITH NITISINONE DEVELOPED METHOD IN WELLCHILD LABORATORY, EVELINA CHILDREN’S HOSPITAL, LONDON. Guerrero P
Fuenzalida K
Faundez A
Valiente A
Turner C
Cornejo V
Chile Novel diagnostic/laboratory methods pdf icon
P-117 QUALITY ASSESSMENT IN INBORN INNATE OF METABOLISM IN CUBA Louro Y
Camayd I
Concepción A
Tudela M
Acosta T
Cuba Novel diagnostic/laboratory methods pdf icon
P-118

Destacado

METABOLOMICS THE NEW “OMICS” TECHNOLOGY IN THE CLINICAL PRACTICE Lizcano-Gil LA
Pappan K
Toal D
Wittmann B
Colombia Novel diagnostic/laboratory methods pdf icon
P-119 DIAGNOSIS OF HMG-COA (3-HYDROXY-3-METHYLGLUTARYL-COA) LYASE DEFICIENCY BY UNTARGETED METABOLOMIC ANALYSIS IN PLASMA Lizcano-Gil LA Colombia Novel diagnostic/laboratory methods pdf icon
P-120

Destacado

MAPLE SYRUP URINE DISEASE IN CHILE: CHARACTERISTICS OF DIAGNOSIS AND TREATMENT IN 45 CHILEAN PATIENTS IN FOLLOW-UP AT INTA, UNIVERSITY OF CHILE Castro G
Cabello JF
Hamilton V
Arias C
Peredo P
De La Parra A
Cornejo V
Chile Organic acidurias: branched-chain pdf icon
P-121 HYPERAMONEMIA AND PROPIONIC ACIDEMIA: CARGLUMIC ACID AND TIME OF AMMONIA REDUCTION DURING METABOLIC DECOMPENSATION. Tubio M C
Bernal A C
Eiroa H
Argentina Organic acidurias: branched-chain pdf icon
P-122 BIOCHEMICAL DIAGNOSIS OF METHYLMALONIC ACIDURIA IN CUBA DURING 2014 TO 2018. Concepción A
Camayd I
Acosta T
León NE
García A
Tamayo V
Quintana D
Calixto Y
Cuba Organic acidurias: branched-chain pdf icon
P-123

Destacado

METHYLMALONIC ACID COMPROMISES ENERGY METABOLISM AND GLUTAMATE UPTAKE IN C6 RAT ASTROGLIAL CELLS Costa RT
Santos MB
Almeida RP
Ribeiro CAJ
Brasil Organic acidurias: branched-chain pdf icon
P-124 METHYLMALONIC ACIDEMIA’S CLINICAL EVOLUTION IN THE FIRST CHILDHOOD: DIFERENCES BETWEEN EARLY AND LATE DIAGNOSIS. Mazza JAS
Martins BC
Poubel M
Andrade AC
Rosa MTAS
Antonialli GPM
Silva RSHG
Cardoso MTO
Brasil Organic acidurias: branched-chain pdf icon
P-125 HEART MITOCHONDRIAL DYFUNCTION PROVOKED BY METABOLITES ACCUMULATING IN PROPIONIC ACIDEMIA Roginski AC
Cecatto C
Wajner A
Wajner M
Amaral AU
Brasil Organic acidurias: branched-chain pdf icon
P-126 PROPIONIC ACIDEMIA (PA). CASE REPORT. Pacheco MG
Morales MA
Argentina Organic acidurias: branched-chain pdf icon
P-127 CLINICAL AND BIOCHEMICAL EVOLUTION OF THE FIRST PATIENT WITH MAPLE SYRUP URINE DISEASE WHO RECEIVES A LIVER TRANSPLANT AT GARRAHAN HOSPITAL Tubio M C
Bernal A C
Eiroa H
Argentina Organic acidurias: branched-chain pdf icon
P-128

Destacado

MSDUD EXPERIMENTAL PROTOCOL INCREASES THE SUSCEPTIBILITY TO LPS-INDUCED INFLAMMATION IN YOUNG WISTAR RATS Rodrigues MS
Wessler LB
de Oliveira J
Scaini G
Streck EL
Brasil Organic acidurias: branched-chain pdf icon
P-129 GLUTARIC ACIDURIA TYPE I: NUTRITIONAL MANAGEMENT EXPERIENCE IN PEDIATRIC PATIENTS IN AN ARGENTINE POPULATION. Crespo D
Becerra A
Guelbert G
Guelbert N
Argentina Organic acidurias: others pdf icon
P-130 LIPID, PROTEIN AND DNA DAMAGE IN GLUTARIC ACIDURIA TYPE I PATIENTS AND THE BENEFICIAL EFFECTS OF L-CARNITINE Guerreiro GB
Jacques CED
Marchetti DP
Faverzani F
Sitta A
Coelho DM
Kok F
Giugliani R
Wajner M
Vargas CR
Brasil Organic acidurias: others pdf icon
P-131 LATE ONSET GLUTARIC ACIDURIA TYPE 1 PRESENTING AS LEUKODYSTROPHY Durand C
Politei JM
Sokn S
Velasquez Rivas D
Fuertes A
Maccarone M
Atanacio N
Villanueva M
Varela FJ
Schenone AB
Argentina Organic acidurias: others pdf icon
P-132 IDENTIFICATION OF ERYTHRO 2,3-DIHYDROXY-2-METHYLBUTIRATE IN URINE Uicich RE
Moix CF
Cases GG
Gimenez MI
Argentina Organic acidurias: others pdf icon
P-133 IN SILICO PREDICTION OF THE PATHOGENIC EFFECT OF HISPANIC R108C VARIANT OF MUT GENE Fernández-Lainez C
Ibarra-González I
Belmont-Martínez L
Guillén-López S
López-Mejía L
Vela-Amieva M
México Organic acidurias: others pdf icon
P-134 TRANSIENT 5-OXOPROLINURIA (PYROGLUTAMIC ACIDURIA) INDUCED BY POLIMEDICATION COMBINED WITH ACETAMINOPHEN Velasquez Rivas D
Maccarone M
Fuertes A
Sokn S
Villanueva M
Dominguez R
Durand C
Massaro M
Schenone AB
Argentina Organic acidurias: others pdf icon
P-135

Destacado

GLUTARIC ACIDURIA TYPE 1 IN CHILE: RESULTS OF 20 YEARS OF DIAGNOSIS AND FOLLOW-UP Hidalgo I
Arias C
Castro G
Cabello JF
Hamilton V
Peñaloza F
Fuenzalida K
Cornejo V
Chile Organic acidurias: others pdf icon
P-136

Destacado

CLINICAL, BIOCHEMICAL AND MOLECULAR CHARACTERISTICS OF MALONYL-COA DECARBOXYLASE DEFICIENCY AND LONG TERM FOLLOW-UP OF NINE PATIENTS Chapel-Crespo C
Gavrilov D
Sowa M
Myers J
Day-Salvatore D
Lynn H
Regier D
Steenari M
Abdenur JE
Estados Unidos Organic acidurias: others pdf icon
P-137 L-2 HYDROXYGLUTARIC ACIDURIA. A CASE CONFIRMED AT 43 YEARS OF AGE. Lemes A
Machado M
Segovia B
Zabala C
Reyno S
Queijo C
Uruguay Organic acidurias: others pdf icon
P-138 URINARY ORGANIC ACID ANALYSIS EXPERIENCE IN DETECTING ORGANIC ACIDURIAS AND OTHER INBORN ERRORS OF METABOLISM IN BRAZIL OVER A TEN-YEAR PERIOD Fonseca JHR
Ribeiro MG
Vieira Neto E
Gomes LNLF
Fonseca AA
Brasil Organic acidurias: others pdf icon
P-139 GLUTATHIONE SYNTHETASE DEFICIENCY PRESENTING AS METABOLIC ACIDOSIS AND NEONATAL HEMOLYTIC ANEMIA  Onna N
Roa AC
Uicich R
Furci A
Kleppe S
Argentina Organic acidurias: others pdf icon
P-140 URINARY ORGANIC ACIDS PROFILE EXCRETION CHARACTERIZATION IN NEONATAL POPULATION Calvo Angie
Guevara Johana
Echeverri Olga
Rojas Catherine
Rodriguez Edwin
Colombia Organic acidurias: others pdf icon
P-141 DIAGNOSTIC DILEMMA OF INBORN METABOLIC DISEASE WITH HYPERAMMONEMIA IN A COLOMBIAN BOY WITH SUSPECTED DISEASE ON INTERMEDIARY METABOLISM Beltrán OI
Márquez W
Cuellar MC
Ladino LY
Colombia Organic acidurias: others pdf icon
P-142 AN INFANTILE CASE OF METHYLMALONIC ACIDURIA WITH HYPEROHOMOCYSTEINEMIA (CBLC). A DIFFICULTO TO DIAGNOSIS DISEASE WITHOUT NEONATAL SCREENING AND WITH FEW EVIDENCES ABOUT THE BEST TREATMENT. Bay LB Argentina Organic acidurias: others pdf icon
P-143 GLUTARIC ACIDEMIA TYPE 1. WIDE PHENOTYPIC EXPRESSION Spécola N
Nuñez Miñana M
Salerno M
Bonvin J
Procopio D
Collini M
Borrajo G
Raskovsky V
Schenone A
Argentina Organic acidurias: others pdf icon
P-144

Destacado

ETHYLMALONIC ACID INDUCES BIOENERGETIC DYSFUNCTION IN RAT CEREBELLUM BY DISTURBING MITOCHONDRIAL SUCCINATE UPTAKE Alvorcem LM
Rosa-Junior NT
Britto R
Cecatto C
Amaral AU
Wajner M
Leipnitz G
Brasil Organic acidurias: others pdf icon
P-145

Destacado

INVESTIGATION OF THE ROLE OF C26: 0-LYSOPHOSPHATIDYLCHOLINE IN THE OXIDATIVE STRESS INDUCTION IN X-LINKED ADRENOLEUKODYSTROPHY Ribas GS
Vargas CR
Coelho D
Marchetti D
Deon M
Giugliani R
Brasil Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders pdf icon
P-146 N-ACETYL-L-CYSTEINE, TROLOX, AND ROSUVASTATIN PROTECT GLIAL CELLS EXPOSED TO HEXACOSANOIC ACID AGAIST INFLAMMATION, LIPID PEROXIDATION AND NITRATIVE STRESS Marchetti DP
Steffens L
Jacques CE
Deon M
de Coelho DM
Moura DJ
Coitinho AS
Vargas CR
Brasil Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders pdf icon
P-147 SITOSTEROLEMIA IN COSTA RICA: REPORT OF THE FIRST CASE Saborío P
Koss R
Noboa A
Saborío M
Badilla R
Costa Rica Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders pdf icon
P-148 PRIMARY TYPE I HYPEROXALURIA IN A SCHOOL WAITING FOR HEPATORENAL TRANSPLANT IN BOGOTÁ, COLOMBIA Márquez William
Oliveros Clara
Ladino Jackeline
Beltran Orieta
Colombia Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders pdf icon
P-149

Destacado

DESCRIPTION OF PHENOTYPE, CLINICAL PRESENTATION, NEUROIMAGING AND FOLLOW UP OF A SERIES OF PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY Troncoso M
Balut F
Santander P
Saez V
Barrios A
Guerra P
Troncoso L
Galvez A
Chile Peroxisomal, sterol, bile acid, lipid and lipoprotein disorders pdf icon
P-150 COGNITIVE ASSESSMENT OF EARLY DETECTED AND TREATED PKU CHILDREN Pardo Campos ML
Enacan R
Valle MG
Chiesa A
Argentina Phenylketonuria general pdf icon
P-151 PARENTING STYLES AND COPING STRATEGIES IN PKU CHILDREN Pardo Campos ML
Enacan R
Valle MG
Chiesa A
Argentina Phenylketonuria general pdf icon
P-152 PKU CLINC EXPERIENCE Valle MG
Enacan R
Méndez V
Prieto L
Pardo Campos ML
Chiesa A
Argentina Phenylketonuria general pdf icon
P-153 DEVELOPMENT OF A PKU RECIPE BOOK BASED ON TRADITIONAL MEXICAN CUISINE WITHOUT INDUSTRIALIZED LOW-PROTEIN PRODUCTS. López-Mejía L
Guillén-López S
Ibarra-González I
Belmont-Martínez L
Lainez-Fernández C
Vela-Amieva M
México Phenylketonuria general pdf icon
P-154 PHENYLALANINE LEVELS DURING TREATMENT OF AN ADOLESCENT WITH PHENYLKETONURIA AND LEUKEMIA Guillén-López S
López-Mejía L
Ibarra-González I
González-Pedroza ML
Belmont-Martínez L
Fernández-Lainez C
Vela-Amieva M
México Phenylketonuria general pdf icon
P-155 PERCEIVED BARRIERS RELATED TO PKU TREATMENT IN BRAZIL Teruya KI
Remor EA
Schwartz IVD
Brasil Phenylketonuria general pdf icon
P-156

Destacado

EDUCATIONAL ANIMATED FILM FOR CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA Vela-Amieva M
Piña-Vela C
Belmont-Martínez L
Guillén-López S
López-Mejía L
Ibarra-González I
Fernández-Lainez C
Vela-Amieva MA
México Phenylketonuria general pdf icon
P-157 PHENYLKETONURIA IN CHILE; ADHERENCE TO TREATMENT IN 130 PKU PATIENTS DIAGNOSED DURING THE NEWBORN PERIODPHENYLKETONURIA IN CHILE; ADHERENCE TO TREATMENT IN 130 PKU PATIENTS DIAGNOSED DURING THE NEWBORN PERIOD Peñaloza F
Castro G
Cabello JF
Hamilton V
De la Parra A
Arias C
Valiente A
Cornejo V
Chile Phenylketonuria general pdf icon
P-158 EVOLUTION OF PKU ADULT PATIENTS DETECTED BY NEONATAL SCREENING Núñez Miñana M
Salerno M
Procopio D
Bonvin J
Collini M
Borrajo G
Spécola N
Argentina Phenylketonuria general pdf icon
P-159 GROWTH AND SIZE EVALUATION IN PATIENTS WITH PHENYLKETONURIA IN A PEDIATRIC HOSPITAL Dos Santos EG
Pereyra MF
Dri J
Verdaguer ML
Carbajal B
Elescano A
Guercio AM
Gatica CI
Argentina Phenylketonuria general pdf icon
P-160 EVALUATION OF THERAPEUTIC RESPONSE TO SAPROPTERINE DICHLORIDRATE FROM A GROUP OF FENILCETONURIC PATIENTS CARRIED OUT OF THE EXTENDED NEONATAL DISTRICT SERVICE IN THE FEDERAL DISTRICT Poubel MO
Silva BCM
Cardoso MTO
Rosa MTAS
Heredia RS
Almeida TLL
Viegas MS
Santos J
Brasil Phenylketonuria: treatment, BH4, PEG-PAL pdf icon
P-161

Destacado

URINARY ORGANIC ACIDS CHROMATOGRAPHY ANALYSIS ON FILTER-PAPER IN PKU: AN ALTERNATIVE APPROACH IN THERAPEUTIC MONITORING OF SAPROPTERIN DIHYDROCHLORIDE RESPONSIVENESS? Miranda OAF
Siqueira MFA
Bissoli L
Junior JWS
Almeida ML
Carneiro ZA
Fonseca JHR
Vagnini L
Oliveira MCFA
Lourenco CM
Brasil Phenylketonuria: treatment, BH4, PEG-PAL pdf icon
P-162 DISORDER OF TETRAHYDROBIOPTERIN CAUSED BY DEFICIENCY OF DIHIDROPTERIDINE REDUTASE (DHPR) Andrade AC
Galvão LS
Mazza JAS
Brasil Phenylketonuria: treatment, BH4, PEG-PAL pdf icon
P-163 48 HS BIOPTERIN TEST IN PKU. ADECUATE NUTRITIONAL PREPARATION Salerno M
Nuñez Miñana M
Procopio D
Bonvin J
Collini M
Specola N
Argentina Phenylketonuria: treatment, BH4, PEG-PAL pdf icon
P-164 BIOCHEMICAL AND CLINICAL DIAGNOSE OF AMINOACIDOPATHIES AND ORGANIC ACIDURIA IN CUBA Contreras J
Padrón A
Concepción A
Camayd I
Martínez L
Allés A
Acosta T
Marín LC
Fuentes LE
Frómeta A
Cuba Amino Acid Disorders pdf icon
P-165 REFERENCE INTERVALS OF THE SERUM AMINO ACID PROFILE IN CUBAN CHILDREN. Contreras J
Padrón A
Concepción A
Fuentes LE
Martínez L
Allés A
Acosta T
Frómeta A
Cuba Amino Acid Disorders pdf icon
P-166

Destacado

PATIENTS WITH TYROSINEMIA TYPE I TREATED AT A HIGH COMPLEXITY PEDIATRIC HOSPITAL IN ARGENTINA: A RETROSPECTIVE STUDY Bindi V
Martinez M
Eiroa H
Argentina Amino Acid Disorders pdf icon
P-167 LYSINURIC PROTEIN INTOLERANCE: INVESTIGATIVE PROCESS AND DESCRIPTION OF A NOVEL VARIANT IN SLC7A7 GENE Oliveira BM
Menezes TV
Coelho DM
Sitta A
Refosco LF
Schwartz IVD
Souza CFM
Brasil Amino Acid Disorders pdf icon
P-168 DELAY IN THE DIAGNOSIS OF INTERMEDIATE FORM OF MAPLE SYRUP URINE DISEASE AND ITS GLOBAL REPERCUSSIONS: A CASE REPORT Santos ES
Andrade KESN
Barbosa AF
Duarte SRS
Garcia SZ
Mendes LAM
Santana GCS
Santos JS
Santos PAR
Silva SW
Brasil Amino Acid Disorders pdf icon
P-169 CHARACTERIZATION OF A COLOMBIAN POPULATION WITH AMINO ACID DISORDERS AND ORGANIC ACIDURIAS TREATED BETWEEN 2009 AND 2018. Muñoz N
Puerta A
Correa LN
Colombia Amino Acid Disorders pdf icon
P-170 NUTRITIONAL MANAGEMENT AND OUTCOMES OF TYROSINEMIA TYPE I PATIENTS IN A PEDIATRIC REFERENCE CENTER IN ARGENTINA Carmona NM
Lavorgna SL
Cresta AS
Levy L
Bindi V
Argentina Amino Acid Disorders pdf icon
P-171 ALKAPTONURIA: NOT AN “ADULT DISEASE” ANYMORE – EARLY DIAGNOSIS FOR EARLY TREATMENT IS ESSENTIAL Schneider FCCA
Fonseca JHR
Vagnini L
Carneiro ZA
Lourenco CM
Brasil Amino Acid Disorders pdf icon
P-172 EXPERIENCE IN MANAGEMENT OF HEREDITARY TYROSINEMIA TYPE 1 IN A REFERENCE HOSPITAL OF PERU  Morales-Acosta MA
Duenas-Roque MM
Bonilla-Suarez C
Protzel-Pinedo A
Perú Amino Acid Disorders pdf icon
P-173 SLEEP DISORDERS CHARACTERIZATION OF CLASSICAL HOMOCYSTINURIA IN PEDIATRIC PATIENTS FROM THE REFERENCE CENTER OF BAHIA, BRAZIL Salles C
Pereira ASS
Gomes ILS
Paim PVSL
Embiruçu EKE
Brasil Sulphur amino acid disorders pdf icon
P-174

Destacado

GENOTYPE-PHENOTYPE CORRELATION IN BRAZILIAN PATIENTS WITH CLINICAL DIAGNOSIS OF CLASSICAL HOMOCYSTINURIA Silva JAO
Veronez CL
Faria DO
Gomez CP
Varela P
Frangipani BJ
Martin RP
D'Almeida V
Martins AM
Pesquero JB
Brasil Sulphur amino acid disorders pdf icon
P-175 CAN THE TREATMENT OF CLASSICAL HOMOCYSTINURIA PATIENTS BE ASSOCIATED WITH THE DIVERSITY OF GUT MICROBIOTA? Rizowy GM
Poloni S
Colonetti K
Donis KC
Dobbler PT
Segal SL
Roesch LFW
Schwartz IVD
Brasil Sulphur amino acid disorders pdf icon
P-176

Destacado

DIAGNOSIS AND FOLLOW-UP OF PATIENTS WITH UREA CYCLE DEFECTS. REPORT OF LOCAL EXPERIENCE Silvera-Ruiz SM
Arranz JA
Häberle J
Angaroni CJ
Grosso CL
Guelbert N
Becerra A
Peralta F
Dodelson de Kremer R
Laróvere LE
Argentina Urea cycle disorders pdf icon
P-177 SINGLE CASE REPORT: ABNORMAL MOVEMENT DISORDER AND CEREBRAL MRI CORRELATION IN NEONATAL CITRULLINEMIA TYPE I Garcia J
Bernal A C
Eiroa H D
Argentina Urea cycle disorders pdf icon
P-178

Destacado

MOLECULAR CHARACTERIZATION OF ORNITHINE TRANSCARBAMILASE (OTC) GENE IN ARGENTINEAN PATIENTS Crespo C
Bernal AC
Eiroa H
Gravina LP
Argentina Urea cycle disorders pdf icon
P-179 DEFICIENCY OF ARGINASE: REPORT OF THE FIRST CASE CONFIRMED IN COSTA RICA Saborío P
Badilla R
Quesada J
Reuben A
Camacho N
Jiménez M
Saborío M
Costa Rica Urea cycle disorders pdf icon
P-180 OTC DEFICIENCY. DESCRIPTION OF 7 PATIENTS OF ONE CENTER IN MONTEVIDEO Zabala C
Castro M
Fernández L
Cabrera A
Machado M
Segobia B
Lemes A
Uruguay Urea cycle disorders pdf icon
P-181 INTERVENTION AND MEDICAL AND NUTRITIONAL TREATMENT OF A NEWBORN WITH HYPERAMMONEMIA. A CASE REPORT Alvarado J
Puerta A
Martínez C
Correa LN
Colombia Urea cycle disorders pdf icon