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Trabajos Orales de Errores Innatos del Metabolismo
Trabajos Orales de Errores Innatos del Metabolismo
Orden |
Título |
Autores |
País |
Tema |
ACCEDER | DESTACADO |
Sesión I - Comunicaciones Orales. Jueves 05 de Mayo. Salón Fillmore A. 16:00 - 17:30 hs. |
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| O-001 | INVESTIGATION OF MUCOPOLYSACCHARIDOSES BY MEASUREMENT OF DISEASE-SPECIFIC OLIGOSACCHARIDES IN CEREBROSPINAL FLUID USING TANDEM MASS SPECTROMETRY | Faqueti L Iop GD Kubaski F Corte AD Baldo G Herbst ZM Pereira D Silva C Bender F Trapp FB Civallero GE Soares J Giugliani R |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses |  |
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| O-002 | PROGRESSION OF CARDIOVASCULAR MANIFESTATIONS IN PATIENTS WITH MUCOPOLYSACCHARIDOSES | Poswar FO Santos HS Santos ABS Berger SV De Souza CFM Giugliani R Baldo G |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses | |
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| O-003 | BRAIN GENE EDITING AFTER NASAL ADMINISTRATION OF THE CRISPR/CAS9 SYSTEM IN MPS II MICE | Pimentel Vera LN Schuh RS Barcelos P Gonzales E Poletto E Tavares A Kubaski F Matte U Teixeira H Giugliani R Baldo G |
Lysosomal disorders: MPS, oligosaccharidoses | |
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| O-004 | PARKINSON'S DISEASE IN ADULT PATIENTS WITH GAUCHER DISEASE TYPE 1: FREQUENCY OF PRE-MOTOR SYMPTOMS AND LYSOSOMAL ENZYMES PROFILE IN CEREBROSPINAL FLUID AND PLASMA | Wilke MVMB Poswar FO Borelli WJV Kubaski F Randon DN Burin MG Tirelli KM Sebastião FM Bender F Lopes F Schuh AS Schwartz IVD |
Brasil | Lysosomal disorders: Sphingolipidoses | |
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| O-005 | MAGNETITE NANOPARTICLES AS VEHICLE TO TRANSPORT RECOMBINANT HEXOSAMINIDASE A AND B THROUGH AN IN VITRO MODEL OF BLOOD-BRAIN BARRIER | Leal AF Cifuentes JF Alméciga-Diaz CJ Cruz JC Espejo-Mojica AJ |
Colombia | Lysosomal disorders: Sphingolipidoses | |
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| O-006 | CRISPR-MEDIATED GENOME EDITING ALLOWS THE PHENOTYPE RECOVERY OF THREE LYSOSOMAL STORAGE DISEASES | Leal AF Alméciga-Diaz CJ |
Colombia | Lysosomal disorders: Gene Therapy | |
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Sesión II - Comunicaciones Orales. Viernes 06 de Mayo. Salón Fillmore A. 10:45 - 11:45 hs. |
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| O-007 | HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY: HIGH CLINICAL VARIABILITY IN ARGENTINEAN PATIENTS WITH HPRT1 C.584A>C MUTATION. CASCADE GENETIC SCREENING FOR IDENTIFICATION OF NEW CASES AND CARRIERS. | Laróvere LE Grosso CL Luna Pizarro AG Guelbert N Dodelson de Kremer R |
Argentina | Disorders of purines, pyrimidines, nucleic acids and porphyrias | |
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| O-008 | EPIDEMIOLOGY OF UREA CYCLE DISORDERS: COHORT OF 134 ARGENTINAN PATIENTS FROM THE LAST 20 YEARS. | Kleppe S Spécola N Núñez-Miñana M Posadas L Cabrera A González E Pereyra M Amartino H Raskovsky V Durand C Silvera-Ruiz SM Bernal AC Roa AC Eiroa HD Laróvere LE |
Argentina | Urea cycle disorders | |
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| O-009 | THE USE OF SWEET MANIOC STARCH COMPARED TO CONVENTIONAL CORNSTARCH IN THE TREATMENT OF GLYCOGEN STORAGE DISEASE TYPE IA | Monteiro VCL Mello de Oliveira B Colonetti K Pagno CH Schmidt HOS Ludwig FS Rios AO De Souza CFM Schwartz IVD |
Brasil | Carbohydrate disorders | |
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| O-010 | PLASMA LIPIDOMIC PROFILING HIGHLIGHTS SEVERE PERTURBATION OF LIPID METABOLISM IN SMITH LEMLI OPITZ SYNDROME | Catesini G Sacchetti E Boenzi S Olivieri G Liguori A Dionisi-Vici C Rizzo C |
Italia | Disorders of Lipids Metabolism | |
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Sesión III - Comunicaciones Orales. Viernes 6 de Mayo. Salón Fillmore A. 16:30 - 17:30 hs. |
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| O-011 | GENE THERAPY USING CRISPR-NCAS9 SYSTEM IN PHENYLKETONURIA | Suárez DA Leal AF Reyes LH Cruz JC Alméciga-Diaz CJ |
Colombia | Amino Acid Disorders: PKU Gene Therapy | |
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| O-012 | PILOT STUDY TO DESCRIBE THE DIET AND GUT MICROBIOTA IN SCHOOLS WITH PHENYLKETONURIA, HYPERPHENYLALANINEMIA AND CONTROLS FROM CHILE | Salazar MF Navarrete P Leal-Witt MJ Arias-Pefaur C Peñaloza F Cornejo V |
Chile | Amino Acid Disorders: PKU Nutrition | |
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| O-013 | INCREASE IN BMI DURING COVID-19 PANDEMIC: AN OBSERVATIONAL STUDY BASED ON TWO BRAZILIAN REFERENCE CENTERS | Gama L Nunes AJB Scortegagna ML Poloni S Refosco LF De Souza CFM Poswar FO Pinheiro VRP Gabetta S Fornazim MC Nakamura KH Girau RR Schwartz IVD |
Brasil | Amino Acid Disorders: PKU and COVID | |
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| O-014 | HOMA2 AND METABOLITES CHARACTERIZATION IN 26 CHILEAN PKU ADULTS WITH AND WITHOUT NONCOMPLIANCE TREATMENT. | Leal-Witt MJ Rojas-Agurto E Hamilton V Peñaloza F Salazar MF Arias-Pefaur C Acevedo A Fuenzalida K Bunout D Cornejo V |
Chile | Amino Acid Disorders: PKU Follow-up | |
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Pósters de Errores Innatos del Metabolismo
Pósters de Errores Innatos del Metabolismo
Salón Avalon B
Orden |
Título |
Autores |
País |
Tema |
ACCEDER | DESTACADO |
| P-001 | GTP CYCLOHYDROLASE DEFICIENCY: AN UNUSUAL FORM OF HYPERPHENYLALANINEMIA. A CASE REPORT | Sotillo-Lindo JF Samudio-Vega A |
Panamá | Amino Acid Disorders: PKU Biopterin Deficiences | |
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| P-002 | PTERIN DEFICIENCY: DIFFERENTIAL DIAGNOSIS IN A SERIES OF CHILEAN CASES. | Arias-Pefaur C Hamilton V Pérez B Cabello JF Leal-Witt MJ Salazar MF Peredo P Cornejo V |
Chile | Amino Acid Disorders: PKU Biopterin Deficiences | |
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| P-003 | SAPROPTERIN DIHYDROCHLORIDE RESPONSIVENESS TEST IN THE MANAGEMENT OF PHENYLKETONURIA: CASE REPORT | Maciel AM Conde FS Chapper M Vargas PR |
Brasil | Amino Acid Disorders: PKU BH4 Treatment | |
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| P-004 | DOES PHENYLALANINE PHYSIOLOGICAL FLUCTUATION AFFECT BH4 RESPONSIVENESS TEST RESULTS FROM A 24H-PROTOCOL? | Nunes AJB Gama L Poloni S Refosco LF Tonon T Monteiro V Tresbach RH Ludwig FS Schwartz IVD |
Brasil | Amino Acid Disorders: PKU BH4 Treatment | |
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| P-005 | FIRST PREGNANT PKU PATIENT TREATED IN THE NBS/PKU REFERENCE CENTER IN RIO GRANDE DO SUL, BRAZIL: CASE REPORT | Maciel AM Vargas PR Conde FS |
Brasil | Amino Acid Disorders: Maternal PKU | |
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| P-006 | MATERNAL PKU UNCOVERED AFTER TRUE POSITIVE NEWBORN SCREENING OF THE SECOND CHILD. | Lemes A Zabala C González V Fernandez L Astapenco V Méndez S Hornblas N Queijo C Cerisola A |
Uruguay | Amino Acid Disorders: Maternal PKU | |
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| P-007 | UPDATE IN THE CHARACTERIZATION OF PHENYLALANINE HYDROXYLASE GENE MUTATIONS IN CHILEAN PKU PATIENTS | Hamilton V Santa María L Leal-Witt MJ Fuenzalida K Desviat LR Ugarte M Pérez B Cabello JF Arias-Pefaur C Cornejo V |
Chile | Amino Acid Disorders: PKU Mutations | |
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| P-008 | PHENYLKETONURIA IN PERU: A DECADE OF FOLLOW-UP | Morales MA Alvarado-Gamarra AG Tahua A Gutierrez V Salazar C Arteaga-Cano M Dueñas-Roque MM |
Perú | Amino Acid Disorders: PKU Follow-up | |
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| P-009 | ANALYSIS OF FOOD FREQUENCY IN PHENYLKETONURIC PATIENTS SEEN AT A PKU REFERENCE CENTER SERVICE IN PORTO ALEGRE, RS, BRAZIL | Maciel AM Conde FS Vargas PR |
Brasil | Amino Acid Disorders: PKU Nutrition | |
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| P-010 | PREVALENCE OF OBESITY AND METABOLIC CONTROL OF PHENYLKETONURIC ADULTS IN THE FEDERAL DISTRICT IN THE COVID-19 PANDEMIC. | Poubel MO Rosa MTAR Silva BCM Gameleira KPD Carvalho MBO Cardoso MT |
Brasil | Amino Acid Disorders: PKU and Obesity | |
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| P-011 | HEALTH TECHNOLOGIES: APPLICATION TO CONSULT THE QUANTITY OF PHENYLALANINE IN BRAZILIAN FOOD. | Santos LL Santos BB Monteiro VCL Candolo H Poloni S Jacoby JT Schwartz IVD |
Brasil | Amino Acid Disorders: PKU Health Technology | |
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| P-012 | DEVELOPMENT OF AN EDUCATIVE MATERIAL TO PROMOTE SELF-CARE OF CHILDREN AND TEENAGERS WITH PHENYLKETONURIA. | Vela-Amieva M Piña-Vela C Rodríguez-Bocardo TG Belmont-Martínez L Carrillo-Nieto RI Guillén-López S López-Mejía L Ibarra-González I Fernández-Láinez C Hernández-Montiel AJ Morales-González LR |
México | Amino Acid Disorders: PKU Education | |
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| P-013 | IMPACT OF THE COVID-19 PANDEMIC ON THE BIOCHEMICAL FOLLOW-UP OF PATIENTS WITH HPA/PKU IN A NATIONAL REFERENCE CENTER | Ibarra-González I Fernández-Láinez C Vela-Amieva M Belmont-Martínez L Guillén-López S López-Mejía L Carrillo-Nieto RI |
México | Amino Acid Disorders: PKU and COVID | |
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| P-014 | EFFECTS OF THE SARS-COV-2 PANDEMIC ON NUTRITION AND METABOLIC CONTROL IN CHILEAN PATIENTS WITH PHENYLKETONURIA. | Leal-Witt MJ Hamilton V Peñaloza F Salazar MF Cornejo V |
Chile | Amino Acid Disorders: PKU and COVID | |
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| P-015 | DIFFERENCES IN THE METABOLIC PROFILE OF TYROSINEMIC TYPE-1 PATIENTS UNDER MEDIUM AND LONG-TERM TREATMENT WITH NITISINONE. | Fuenzalida K Leal-Witt MJ Gudenschwager-Ruiz C Acevedo A Arias-Pefaur C Guerrero P Cornejo V |
Chile | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-016 | A MACHINE-LEARNING APPROACH TO DEFINE -THROUGH CLINICAL AND BIOCHEMICAL BIOMARKERS- SUBTYPES OF TYROSINEMIA TYPE-1 PATIENTS UNDER ACTIVE FOLLOW-UP | Gudenschwager-Ruiz C Fuenzalida K Leal-Witt MJ Arias-Pefaur C Cornejo V Acevedo A |
Chile | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-017 | CLINICAL, BIOCHEMICAL AND MOLECULAR FEATURES OF TYROSINEMIA TYPE I PATIENTS DIAGNOSED AND FOLLOWED AT HOSPITAL JUAN P GARRAHAN, ARGENTINA | Bindi V Crespo C Eiroa HD |
Argentina | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-018 | TYROSINEMIA TYPE 1: REPORT OF THE THIRD CASE CONFIRMED IN PERU | Morales MA Purizaca N Alvarado-Gamarra AG Tahua A Salazar C Muñoz A Dueñas-Roque MM |
Perú | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-019 | CLINICAL EVOLUTION OF A COHORT TYROSINEMIA TYPE 1 PATIENTS IN CHILE: OUTCOME FROM 25 YEARS IN FOLLOW UP PROGRAM AT A NATIONAL REFERENCE CENTER | Arias-Pefaur C Hamilton V Fuenzalida K Cabello JF Leal-Witt MJ Salazar MF Peredo P Guerrero P Valiente AG Cornejo V |
Chile | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-020 | NUTRITIONAL STATUS IN TYROSINEMIA TYPE 1 CHILEAN SUBJECTS | Hamilton V Leal-Witt MJ Salazar MF Peñaloza F Fuenzalida K Peredo P Cabello JF Arias-Pefaur C Cornejo V |
Chile | Amino Acid Disorders: Tyrosinemia type 1 | |
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| P-021 | TYROSINEMIA TYPE III: REPORT OF A MEXICAN CASE AND IMPORTANCE OF THE STUDY OF SIBLINGS. | Belmont-Martínez L Carrillo-Nieto RI Vela-Amieva M Guillén-López S López-Mejía L Ibarra-González I Fernández-Láinez C |
México | Amino Acid Disorders: Tyrosinemia type 3 | |
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| P-022 | MAPLE SYRUP URINE DISEASE (MSUD) ASSOCIATED WITH CLIFAHDD SYNDROME: A CASE REPORT | Ulloa D Torres J Mennickent P Mabe P |
Chile | Amino Acid Disorders: MSUD | |
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| P-023 | MAPLE SYRUP URINE DISEASE (MSUD): EARLY NUTRITIONAL MANAGEMENT OF SIBLINGS DIAGNOSED AND TREATED FROM BIRTH | Lavorgna SL Cresta AS Levy L Carmona NM |
Argentina | Amino Acid Disorders: MSUD | |
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| P-024 | NUTRITIONAL ASSESSMENT PRE AND POST-LIVER TRANSPLANT IN PATIENTS WITH INBORN ERRORS OF METABOLISM: MAPLE SYRUP URINE DISEASE AND TYROSINEMIA TYPE 1 | Scortegagna ML Poloni S Refosco LF Sauer P Backes NA Vieira SMG De Souza CFM Schwartz IVD |
Brasil | Amino Acid Disorders: MSUD | |
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| P-025 | NEONATAL NONKETOTIC HYPERGLYCINEMIA. FIRST MEXICAN REPORT; HOMOZYGOUS MUTATION IN THE GENE GLDC, C.2219C>G (P.C740G) | Vargas-Quevedo E Ibarra-Mendez F Ordoñez-Gutierrez E Cano-Hernandez KS Pezzoti y Renteria MA |
México | Amino Acid Disorders: Nonketotic Hyperglycinemia | |
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| P-026 | ORNITHINE-TRANSCARBAMYLASE DEFICIENCY IN FEMALE PATIENTS. A CASE REPORT. | Sotillo-Lindo JF Samudio-Vega A |
Panamá | Amino Acid Disorders: OTC Deficiency | |
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| P-027 | HYPERAMMONEMIA SECONDARY TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY DUE TO SYNONYM PATHOGENIC VARIANT IN OTC GEN: A CASE REPORT | Barrantes JS Beltrán OI |
Colombia | Amino Acid Disorders: OTC Deficiency | |
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| P-028 | CLINICAL AND METABOLIC PROFILE OF A MOLECULAR CONFIRMED MEXICAN PATIENT WITH GLYCINE N-METHYL TRANSFERASE: CASE REPORT | Guillén-López S Vela-Amieva M Ibarra-González I López-Mejía L Fernández-Láinez C Rodriguez-González G Carrillo-Nieto RI |
México | Amino Acid Disorders: Sulphur disorders | |
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| P-029 | THE RELATIONSHIP BETWEEN SHORT-CHAIN FATTY ACIDS AND GUT MICROBIOTA PROFILE IN CLASSICAL HOMOCYSTINURIA PATIENTS | Rizowy GM Poloni S Colonetti K Donis KC Dobbler PT Pinto PM Segal SL Roesch LFW Schwartz IVD |
Brasil | Amino Acid Disorders: Homocystinuria | |
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| P-030 | MOLECULAR BASIS OF CLASSICAL HOMOCYSTINURIA IN BRAZIL: REPORT OF 52 PATIENTS AND 5 NOVEL MUTATIONS | Silvano GG Poloni S Ludwig FS Hoss GW Rizowy GM Colonetti K Cruz PP Borsatto T Schwartz IVD |
Brasil | Amino Acid Disorders: Homocystinuria | |
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| P-031 | ALKAPTONURIA: CLINICAL CASE AND NEW MUTATION REPORT | Márquez-Peñaranda WR Mejia N Pino S Diaz A |
Colombia | Amino Acid Disorders: Alkaptonuria | |
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| P-032 | A CASE OF GYRATE ATROPHY OF CHOROID AND RETINA | Zabala C González V Cirillo E Fernandez L Cabrera A Cerisola A Lemes A |
Uruguay | Amino Acid Disorders: Others | |
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| P-033 | REPORT OF MUTATION IN THE PHOSPHORYLASE KINASE (PHKA2) GENE IN A FAMILY OF CARTAGENA DE INDIAS, COLOMBIA | Alvear CC Moneriz CE De Vivero R Pérez B |
Colombia | Carbohydrate disorders | |
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| P-034 | BONE STATUS IN 10 CHILEAN PATIENTS WITH GLUT 1 DEFICIENCY (GLUT1D) TREATED WITH KETOGENIC DIET | Baeza C Parga V Leal-Witt MJ De la Parra A Castiglioni C Suarez B Ríos L Cuevas M Le Roy C Pérez C Cabello JF Carrasco X López F Cornejo V |
Chile | Carbohydrate disorders | |
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| P-035 | GLUCOSE TRANSPORTER 1 DEFICIENCY: A BRAZILIAN COHORT STUDY OF AN TREATABLE INBORN ERROR OF METABOLISM | Sobrinho LMF Silva TO Refosco LF Poloni S Monteiro V Silva LS Luiza Poswar FO De Souza CFM Schwartz IVD |
Brasil | Carbohydrate disorders | |
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| P-036 | FEEDING DIFFICULTIES IN CHILDREN WITH HEPATIC GLYCOGEN STORAGE DISEASES IDENTIFIED BY A VALIDATED SCREENING TOOL IN BRAZILIAN-PORTUGUESE | Sartor BCP Mello de Oliveira B de Moraes GPM Teruya KI Tonon T Refosco LF Diniz PB De Souza CFM Schwartz IVD |
Brasil | Carbohydrate disorders | |
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| P-037 | CHARACTERIZATION OF THE POPULATION WITH GLYCOGEN STORAGE DISEASES IN CHILE AND THE IMPACT OF THE GENETIC STUDY ON THE DEFINITIVE DIAGNOSIS OF THE DISEASE | Grez C Cabello JF Araya M Salazar MF Cornejo V |
Chile | Carbohydrate disorders | |
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| P-038 | CLINICAL CHANGES IN PEDIATRIC PATIENTS WITH TYPE IIIA GLYCOGENOSIS WITH A HIGH DIET PROTEIN | Reyes-Apodaca M Consuelo-Sánchez A Klünder-Klünder M Medeiros-Domingo M Vázquez-Frías R |
México | Carbohydrate disorders | |
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| P-039 | GLYCOGEN STORAGE DISEASE TYPE IV-A: A CASE SERIES | Wilke MVMB Tzovenos Starosta R Mello de Oliveira B Menezes de Siqueira AC Goncalves Vieira SM Schmidt Cerski CT De Souza CFM Schwartz IVD |
Brasil | Carbohydrate disorders | |
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| P-040 | BETAKETOTHIOLASE DEFICIENCY: REPORT OF THE FIRST CONFIRMED CASE IN PERU | Morales MA Salazar C Tahua A Purizaca N Alvarado-Gamarra AG |
Perú | Disorders of fatty acid oxidation and ketone body metabolism | |
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| P-041 | VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY WITH LETHAL CARDIOMYOPATHY IN TWO NEONATES | Pareja I Mesa SC Restrepo F Camacho I Giraldo G Agudelo K Henao AI Velez C Baquero C |
Colombia | Disorders of fatty acid oxidation and ketone body metabolism | |
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| P-042 | MENKES DISEASE: BETWEEN SUSPICION AND DISTRACTORS. | Coronel C Pedersoli M Navacchia D Durand C |
Argentina | Disorders of vitamins, cofactors and trace elements | |
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| P-043 | AUTISM SPECTRUM DISORDER FEATURES IN PATIENTS WITH INBORN ERRORS OF METABOLISM: TWO NORTHEAST BRAZILIAN EXAMPLES | Santos ES Rollemberg CVV Gomes PZ Santos PAR Costa JPD Diniz JS Soares BL Sales VBS |
Brasil | Inborn Errors of Metabolism and Autism | |
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| P-044 | EPIDEMIOLOGICAL PROFILE OF PATIENTS WITH INBORN ERRORS OF METABOLISM IN A NORTHEAST BRAZILIAN STATE | Santos PAR Santana GCS Gomes MAB Bispo LM Santos ES |
Brasil | Inborn Errors of Metabolism: Epidemiology | |
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| P-045 | THE INBORN ERRORS OF METABOLISM CALL FREE SERVICE IN BRAZIL (SIEM): FOR MORE THAN 20 YEARS HELPING HEALTH PROFESSIONALS IN THE DIAGNOSIS AND MANAGEMENT OF METABOLIC GENETIC DISORDERS | Rohenkol-SC A Zaffari-M A Moura-S F Rafaeli CL Farret-R L Magalhães-DL C Giugliani R De Souza CFM |
Brasil | Inborn Errors of Metabolism: Diagnostic System | |
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| P-046 | DIAGNOSTIC YIELD OF WHOLE EXOME SEQUENCING IN A COHORT OF COLOMBIAN PATIENTS WITH CLINICAL SUSPICION OF INBORN ERRORS OF METABOLISM: CLINICAL AND GENETIC CHARACTERIZATION | Suarez M Bello SP Sanchez DC Serrano D Galvez JM |
Colombia | Inborn Errors of Metabolism: Genomic Diagnostic | |
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| P-047 | IDENTIFICATION OF VANILLACTIC AND VANILLYLMANDELIC ACIDS RATIO FROM RETROSPECTIVE ANALYSIS OF URINE ORGANIC ACIDS CHROMATOGRAMS IN A COLOMBIAN REFERENCE CENTER. | Calvo A Ardila YA Echeverri-Peña OY Guevara-Morales JM Pulido NF Acosta J Alméciga-Diaz CJ |
Colombia | Inborn Errors of Metabolism: Laboratory | |
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| P-048 | AMINO ACID ANALYSIS FOR DIAGNOSIS OF INBORN ERRORS OF METABOLISM. EXPERIENCE WITH HIGH-RISK POPULATION | Calvo AM Ardila YA Pulido NF Echeverri-Peña OY Guevara-Morales JM |
Colombia | Inborn Errors of Metabolism: Laboratory | |
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| P-049 | COVID-19 INFECTION IN THE PEDIATRIC PATIENTS WITH INBORN ERRORS OF METABOLISM: REPORT OF 18 LATIN AMERICAN PATIENTS AFFECTED IN THE PRE-VACCINATION ERA | de Magalhães APS Randon DN Silva TO De Souza CFM Poswar FO Horovitz DDG Pinto LLC Amartino H Schwartz IVD |
Brasil | Inborn Errors of Metabolism and COVID | |
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| P-050 | EFFECTS OF THE SARS-COV-2 PANDEMIC ON PATIENTS WITH INBORN ERRORS OF METABOLISM. A LITERATURE REVIEW | Cancino-Ricketts DF Ríos-Mora J Sáenz-Díaz LC Echeverri-Peña OY Guevara-Morales JM |
Colombia | Inborn Errors of Metabolism and COVID | |
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| P-051 | IMPACT OF PANDEMICS IN BIOCHEMICAL DIAGNOSIS OF INBORN ERRORS OF METABOLISM. EXPERIENCE OF A COLOMBIAN REFERENCE CENTER | Ardila YA Pulido NF Guevara-Morales JM Echeverri-Peña OY |
Colombia | Inborn Errors of Metabolism and COVID | |
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| P-052 | EDUCATION AND DISSEMINATION OF IEM INFORMATION. A WEB-BASED PROPOSAL. | Caro-Naranjo AR Puentes MA Benincore E Báez C Suárez D Solano D Leal AF Lerma P Contreras N Márquez S Gómez E Pulido Z Rodriguez E Ruíz K Garzón R Alméciga-Diaz CJ Echeverri-Peña OY Espejo-Mojica AJ Guevara-Morales JM |
Colombia | Inborn Errors of Metabolism: Education | |
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| P-053 | THE CRYPTOLOGY OF DISEASE. HOW WE LEARNED TO DECODE AND CORRECT INHERITED DISEASES. | Barrera-Avellaneda LA | Colombia | Inborn Errors of Metabolism: Education | |
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| P-054 | CONGENITAL DISORDER GLYCOSYLATION IB: REPORT OF A MEXICAN PEDIATRIC CASE | Consuelo-Sánchez A Reyes-Apodaca M Urban ML Baeza C Valencia P Aguirre J |
México | Glycosylation disorders/CDG, protein modification disorders | |
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| P-055 | REPORT OF TWO PATIENTS WITH CDG TYPE II WITH TRANSAMINITIS, HYPOTONIA AND MYOPATHY | Mesa SC Pareja I Baquero C Ruiz P Suarez M Agudelo K |
Colombia | Glycosylation disorders/CDG, protein modification disorders | |
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| P-056 | BODY COMPOSITION OF MEXICAN PEDIATRIC PATIENTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY. | Reyes-Apodaca M Consuelo-Sánchez A Vázquez R Delgado I Acosta P López D Almiray AL |
México | Lysosomal disorders: Others | |
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| P-057 | NEPHROPATIC CYSTINOSIS IN THE DOMINICAN REPUBLIC: CASE REPORT. | Almonte-Taveras M Guzman RCA Rodriguez C |
República Dominicana | Lysosomal disorders: Others | |
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| P-058 | NEURONAL CEROID LIPOFUSCINOSIS: AN EPIDEMIOLOGICAL APPROACH IN LATIN AMERICA | Guelbert GA Pesaola F Venier AC Cismondi IA Becerra AB Vazquez JCG Fernandez E De Paul A Guelbert N Noher de Halac I |
Argentina | Lysosomal disorders: Others | |
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| P-059 | AN UNUSUAL DIAGNOSIS: 2 CASES OF SALLA DISEASE | Mena R Calderón M Familia CL |
República Dominicana | Lysosomal disorders: Others | |
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| P-060 | APTAMER EVALUATION WITH AFFINITY FOR BLOOD-BRAIN BARRIER RECEPTORS CONJUGATED TO THE ENZYME ALPHA-N-ACETYLGLUCOSAMINIDASE | Ordóñez A Alméciga-Diaz CJ Espejo-Mojica AJ |
Colombia | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-061 | PRENATAL DIAGNOSIS OF LYSOSOMAL STORAGE DISORDERS BY THE ANALYSIS OF AMNIOTIC FLUID SUPERNATANT USING MASS SPECTROMETRY: EXPERIENCE IN MUCOPOLYSACCHARIDOSIS VI AND METACHROMATIC LEUKODYSTROPHY | Giugliani R Kubaski F Menezes de Siqueira AC Herbst ZM Pereira D Silva C Faqueti L Iop GD Trapp FB Brusius-Facchin AC Netto ABO Leistner-Segal S De Souza CFM Kessler R Tirelli KM Burin MG Wilke MVMB Oliveira T Sanseverino MT Mason R Tomatsu S |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-062 | CASE REPORT: VARIANT OF UNCERTAIN SIGNIFICANCE CONFUSING THE OUTCOME OF NEWBORN SCREENING | Prazeres VMG Silva LCP Santos SMS Cruz DAS Dantas ICA |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-063 | GENOME EDITING IN MUCOPOLYSACCHARIDOSIS FIBROBLASTS USING CRISPR-CAS9 | Suárez DA Alméciga-Diaz CJ |
Colombia | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-064 | HIGH-RISK POPULATION SCREENING BY DIFFERENTIAL DIAGNOSIS FOR MUCOPOLYSACCHARIDOSES (MPSS) | Schwarz M Oliva P Mechtler T Liebmann-Reindl S Sansen S Streubel B Kasper D |
Austria | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-065 | HURLER'S SYNDROME: A CASE REPORT | Ortiz IY Báez K Acevedo N Noboa J |
República Dominicana | Lysosomal disorders: MPS, oligosaccharidoses | |
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| P-066 | COMPLEX REARRANGEMENT IN THE IDS GENE IN PERUVIAN TWINS WITH MUCOPOLYSACCHARIDOSIS TYPE II | Chávez-Pasco VG Bonilla-Suárez ACL Bazalar-Montoya JY Rodríguez RS Celis-García LE Franco KC Manassero-Morales GC |
Perú | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-067 | FIBROBLAST FROM PATIENTS WITH MUCOPOLYSACCHARIDOSES IIIB AND IVA EXHIBIT AN ALTERED EPIGENETIC PROFILE | Vargas-López V Alméciga-Diaz CJ |
Colombia | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-068 | IN VITRO EVALUATION OF HYDROLYTIC ACTIVITY OF TWO RECOMBINANT N-ACETYLGLUCOSAMINIDASES AS POTENTIAL THERAPEUTIC TOOLS FOR MUCOPOLYSACCHARIDOSIS IIIB | Duarte VM Leal AF Triana H Alméciga-Diaz CJ Espejo-Mojica AJ |
Colombia | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-069 | DISEASE PROGRESSION IN SANFILIPPO TYPE B: CASE SERIES OF BRAZILIAN PATIENTS | Montenegro YHA Kubaski F Trapp FB Ribeiro EM Lourenço CM Cardoso-dos-Santos AC Ribeiro MG Kim CA Castro MAA Embiruçu EKE Steiner CE Vairo FP Giugliani R Baldo G |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-070 | CASE REPORT OF TYPE IV MUCOPOLYSACCHARIDOSIS DIAGNOSED AND TREATED DURING COVID-19 PANDEMIC | Silva LCP Prazeres VMG Almeida MJC Santos SMS Cruz DAS Dantas ICA Cabral JM |
Brasil | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-071 | CLINICAL, BIOCHEMICAL, AND MOLECULAR ANALYSIS OF AN ADULT PATIENT WITH SEVERE PHENOTYPE OF MUCOPOLYSACCHARIDOSIS TYPE IVA WITH A NEW HETEROZYGOUS VARIANT C.1481T>C (P.M494T) IN GALNS | Venegas-Vega CA | México | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-072 | FACIAL DYSMORPHOLOGIES IN MUCOPOLYSACCHARIDOSIS TYPE IVA: EXPLORING THE ANCESTRY COMPONENT IN A COLOMBIAN POPULATION | Candelo E Martínez-abadías N Echeverry LM Gómez E Solís P Diaz L Ortiz D Ramirez D González A Sevillano X Cuéllar JC Pachajoa H |
Colombia | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-073 | CLINICAL, BIOCHEMICAL AND MOLECULAR CHARACTERIZATION OF MUCOPOLYSACCHARIDOSIS TYPE VI PATIENTS AT DR. ROBERT REID CABRAL CHILDREN´S HOSPITAL, DOMINICAN REPUBLIC | Ramírez JA Jáquez FA Pérez CE Herrera DA |
República Dominicana | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-074 | MUCOPOLYSACCHARIDOSIS TYPE VII: CLINICAL AND BIOCHEMICAL FOLLOW-UP OF AN ARGENTINIAN PATIENT RECEIVING ENZYME REPLACEMENT THERAPY | Flores RC Gimenez M Durand C |
Argentina | Lysosomal disorders: MPS, oligosaccharidoses | |
|
| P-075 | POMPE DISEASE IN A FEMALE INFANT WITH CARDIOMYOPATHY. A CASE REPORT. | Sotillo-Lindo JF Samudio-Vega A |
Panamá | Lysosomal disorders: Pompe | |
|
| P-076 | INFANTIL ONSET POMPE DISEASE AT DR.ROBERT REID CABRAL HOSPITAL,SANTO DOMINGO,DOMINICAN REPUBLIC | Pérez CE Ramírez JA Ferrán CE Lopez M Diaz FM |
República Dominicana | Lysosomal disorders: Pompe | |
|
| P-077 | IDENTIFICATION OF CLINICAL MANIFESTATIONS IN COLOMBIAN PATIENTS WITH GAUCHER DISEASE | Arturo-Terranova D Moreno-Giraldo LJ Satizabal-Soto JM |
Colombia | Lysosomal disorders: Sphingolipidoses | |
|
| P-078 | USE OF GENE INTERACTION NETWORKS TO UNDERSTAND THE PHENOTYPIC HETEROGENEITY OF GAUCHER DISEASE | Arturo-Terranova D Moreno-Giraldo LJ Satizabal-Soto JM |
Colombia | Lysosomal disorders: Sphingolipidoses | |
|
| P-079 | GAUCHER DISEASE TYPE III – DIAGNOSTIC CHALLENGES IN A PEDIATRIC PATIENT IN PORT-AU-PRINCE, HAITI | Alcénat NA François LC Jean EL Rouzier VA De La Rosa JI Pérez CE |
Haiti | Lysosomal disorders: Sphingolipidoses | |
|
| P-080 | COGNITIVE AND ADAPTIVE PROFILES IN PATIENTS WITH GAUCHER DISEASE TYPE 3 AT DR. ROBERT REID CABRAL CHILDREN´S HOSPITAL, DOMINICAN REPUBLIC | Pérez CE Ferrán CE Mendoza RM |
República Dominicana | Lysosomal disorders: Sphingolipidoses | |
|
| P-081 | TGF-Β1 AND CASPASE-3 ARE INVOLVED IN FABRY NEPHROPATHY | Bondar C Mucci JM Bolla MA Quieto P Pisani A Feriozzi S Neumann P Rozenfeld PA |
Argentina | Lysosomal disorders: Sphingolipidoses | |
|
| P-082 | IS IT A FABRY DISEASE OR A SARCOMERIC HYPERTROPHIC CARDIOMYOPATHY A POSSIBLE PITFALL IN DIAGNOSIS? | Santos ES Costa JPD Diniz JS Soares BL Sales VBS Belém JO Melo BC Filho JAB Sousa ACS Oliveira JLM |
Brasil | Lysosomal disorders: Sphingolipidoses | |
|
| P-083 | INFECTION-INDUCED HEMOLYTIC UREMIC SYNDROME IN A GIRL WITH FABRY DISEASE | Poswar FO De Souza CFM Giugliani R |
Brasil | Lysosomal disorders: Sphingolipidoses | |
|
| P-084 | DIAGNOSTIC STRATEGY FOR SUSPECTED CASES OF FABRY DISEASE | Oliva P Balendran S Sansen S Mechtler T Streubel B Kasper D |
Austria | Lysosomal disorders: Sphingolipidoses | |
|
| P-085 | GLOBOTRIAOSYLSPHINGOSINE (LYSO-GB3) DETERMINATION IN CLASSIC AND LATE ONSET FABRY PATIENTS | Rozenfeld PA Ceci R Agueda V Barrales F Vaena E Ormazabal M Crivaro A Mucci JM Bondar C |
Argentina | Lysosomal disorders: Sphingolipidoses | |
|
| P-086 | THE IMPORTANCE OF USING SEVERAL BIOMARKERS WHEN INVESTIGATING LSDS WITH OVERLAPPING PHENOTYPES: REPORT OF A CASE OF GM1 GANGLIOSIDOSIS IDENTIFIED AS AN INCIDENTAL FINDING | Netto ABO Brusius-Facchin AC Kubaski F Faqueti L Iop GD Civallero GE Burin MG Tirelli KM Trapp FB Giugliani R |
Brasil | Lysosomal disorders: Sphingolipidoses | |
|
| P-087 | CLINICAL PRESENTATION OF METACHROMATIC LEUKODYSTROPHY ACCORDING TO CLINICAL PHENOTYPES: DESCRIPTIVE STUDY IN A SPECIALIZED CENTER. | González MG Frabasil J Schteinschnaider A Durand C |
Argentina | Lysosomal disorders: Sphingolipidoses | |
|
| P-088 | LIMITATIONS IN THE DIAGNOSIS OF NIEMANN-PICK C: ANALYSIS OF A MEXICAN PATIENT | Contreras-Capetillo SN Vilchis-Zapata Z Abreu-González M Ribbon-Conde J |
México | Lysosomal disorders: Sphingolipidoses | |
|
| P-089 | FIVE CASES OF NIEMANN-PICK TYPE C DISEASE: CLINIC, DIAGNOSIS, TREATMENT AND FOLLOW-UP | Cerisola A Zabala C Martino C González V Cibils L González G Lemes A |
Uruguay | Lysosomal disorders: Sphingolipidoses | |
|
| P-090 | NIEMANN PICK TYPE C: A CURIOUS CASE OF A PRESCHOOLER WITH REGRESSION SYNDROME AND VISCEROMEGALY | Sotillo-Lindo JF Samudio-Vega A |
Panamá | Lysosomal disorders: Sphingolipidoses | |
|
| P-091 | PREOPERATIVE THERAPY WITH DIHYDROTESTOSTERONE IN PATIENTS WITH DEFICIENCY OF 5 ALPHA-REDUCTASE IMPROVES SURGICAL RESULTS. PRESENTATION OF A CASE. | Guzman RCA Ovalle R Morla E Vargas E Almanzar R Mejía A Suarez E Rivera L Burgos M |
República Dominicana | Miscellaneous | |
|
| P-092 | ARE YOU ABLE TO RECOGNIZE THE ATTENUATED PHENOTYPE OF AADC DEFICIENCY? | Amartino H Durand C |
Argentina | Miscellaneous | |
|
| P-093 | CIRRHOSIS BY CONGENITAL DEFICIENCY OF BILE ACID SYNTHESIS: RARE CLINICAL CASE IN COLOMBIA | Márquez-Peñaranda WR Mora D Ladino LY Cañón IC Diaz A Ordoñez F Bustos JC |
Colombia | Miscellaneous | |
|
| P-094 | CONGENITAL DEFECTS OF BILE ACID SYNTHESIS TREATED WITH PRIMARY BILE ACIDS: 10-YEAR FOLLOW-UP | Duran G Gana C |
Chile | Miscellaneous | |
|
| P-095 | ALPHA 1 ANTITRYPSIN DEFICIENCY IN COSTA RICA: ENZYMATIC LEVELS AND PHENOTYPES DETECTED IN SUSPECTED PATIENTS | Camacho N Reuben A Marín P Jiménez M Saborío M |
Costa Rica | Miscellaneous | |
|
| P-096 | AICARDI-GOUTIERES SYNDROME: CLINICAL, NEUROIMAGING AND GENETIC FINDINGS. | Cerisola A Zabala C González V Espinoza A Martino C González G Lemes A |
Uruguay | Miscellaneous | |
|
| P-097 | PROFILE OF PATIENTS WITH SUSPECTED CILIOPATHIES TREATED IN A PULMONOLOGY DEPARTMENT IN THE DOMINICAN REPUBLIC. | Matos A Espaillat C Lynch J Casado S Garcia M Almanzar F Cruz RJ Tabar A Cordero LA |
República Dominicana | Miscellaneous | |
|
| P-098 | URINARY ORGANIC ACID PROFILE BY GAS CHROMATOGRAPHY / MASS SPECTROMETRY (GC/MS) AS A USEFUL TOOL FOR THE DIAGNOSIS OF PEARSON SYNDROME. A CASE REPORT. | Rodríguez-Rivera MR Martinez-Garza LE Torres-Sepúlveda R Ibarra M Villarreal L |
México | Mitochondrial disorders: mtDNA | |
|
| P-099 | A NEW CASE OF SFXN4 (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS | Huang WL Chapel-Crespo CC Bressi R Simon MT Stover A Nguyen D Schwartz P Abdenur JE |
Estados Unidos | Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle | |
|
| P-100 | A SEVERE CLINICAL CASE OF LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE (LTBL) DUE TO MUTATIONS IN THE EARS2 GENE. | Cerisola A Martino C Gándaro Zabala C González V Raggio V Spangenberg L Lemes A |
Uruguay | Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle | |
|
| P-101 | LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL DARS2 MUTATION AND MITOCHONDRIAL DYSFUNCTION | Huang WL Simon MT Stover A Chang R Schwartz P Abdenur JE |
Estados Unidos | Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle | |
|
| P-102 | RECURRENT HYPERAMMONEMIA SECONDARY TO ATP-SYNTHASE (MITOCHONDRIAL COMPLEX V) DEFECT: REPORT OF A CASE | Suarez N Torres J Mabe P |
Chile | Mitochondrial disorders: nuclear encoded, disorders of pyruvate metabolism and the Krebs cycle | |
|
| P-103 | GENOMIC FACTORS INVOLVED IN NEURODEVELOPMENT DISORDERS. CASE REPORT. | Forero AM Moreno-Giraldo LJ |
Colombia | Novel diagnostic/laboratory methods | |
|
| P-104 | MOLECULAR CHARACTERIZATION OF INBORN ERRORS OF METABOLISM THROUGH TARGETED NGS IN ARGENTINEAN PATIENTS: HIGH DIAGNOSTIC YIELD AND LOCAL VARIANTS RATE. | Crespo C Bindi V Juanes M Armani GR García F Bernal AC Gomez A Romina R Eiroa HD Gravina LP |
Argentina | Novel diagnostic/laboratory methods | |
|
| P-105 | NEW PATHOGENIC SYNONYMOUS VARIANT OF THE PLCG2 GENE RELATED WITH AUTOINFLAMMATION AND PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION (APLAID): CASE REPORT | Flórez-Hurtado J Moreno-Giraldo LJ |
Colombia | Novel diagnostic/laboratory methods | |
|
| P-106 | GLUTARIC ACIDURIA TYPE 1 (GA1): CLINICAL HIGHLIGHTS FROM A CASE SERIES | Torres J Mennickent P Legue M Mabe P |
Chile | Organic Acidurias: Glutaric acidemia type 1 | |
|
| P-107 | CLINICAL, BIOCHEMICAL, MRI AND MOLECULAR FINDINGS OF 8 URUGUAYAN PATIENTS WITH GLUTARIC ACIDURIA TYPE I | Cerisola A Zabala C González V Machado M González F Navarro A Costales D González G Queijo C Lemes A |
Uruguay | Organic Acidurias: Glutaric acidemia type 1 | |
|
| P-108 | DESCRIPTION OF THE IMMUNOPHENOTYPE OF PEDIATRIC PATIENTS WITH PROPIONATE DEFECTS WITH AND WITHOUT METABOLIC DECOMPENSATION | López-Mejía L Guillén-López S Fernández-Láinez C Ibarra-González I Medina-Torres E Espinosa-Padilla S Carrillo-Nieto RI Belmont-Martínez L Vela-Amieva M |
México | Organic Acidurias: Propionic acidemia | |
|
| P-109 | PROPIONIC ACIDEMIA. THE EXPERIENCE OF THE MEDICAL PRACTICE IN ONE PATIENT IN MEXICO | Vargas-Quevedo E Cano-Hernandez KS Ordoñez-Gutierrez E Pezzoti y Renteria MA |
México | Organic Acidurias: Propionic acidemia | |
|
| P-110 | COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA IN ARGENTINEAN PATIENTS. FROM ACQUIRED DEFICIENCIES TO INBORN ERRORS OF METABOLISM: CLINICAL PRESENTATION, BIOCHEMICAL DIAGNOSIS AND MANAGEMENT. | Grosso CL Bezard MB Becerra AB Guelbert GA Angaroni CJ Laróvere LE Dodelson de Kremer R |
Argentina | Organic Acidurias: Methyl Malonic acidemia and CblC | |
|
| P-111 | METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA CBLC TYPE: FIRST CASE OF EPI-CBLC IN LATIN AMERICA? | Bonilla-Suárez ACL Chávez-Pasco VG Manassero-Morales GC Celis-García LE Franco KC Bazalar-Montoya JY Rodríguez RS |
Perú | Organic Acidurias: Methyl Malonic acidemia and CblC | |
|
| P-112 | COMBINED METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA CBLC TYPE: A PERUVIAN SERIE | Bonilla-Suárez ACL Chávez-Pasco VG Bindels RE Manassero-Morales GC Rojas LE Celis-García LE Franco KC Alegre SP Angulo MJ Aramburú NC |
Perú | Organic Acidurias: Methyl Malonic acidemia and CblC | |
|
| P-113 | TWO CASES OF COBALAMIN C DEFICIENCY WERE DETECTED BY NEWBORN SCREENING IN URUGUAY. | Zabala C Astapenco V González V Machado M González F Cerisola A Queijo C Lemes A |
Uruguay | Organic Acidurias: Methyl Malonic acidemia and CblC | |
|
| P-114 | MOLECULAR AND BIOCHEMICAL CHARACTERISTICS IN MEXICAN PATIENTS WITH INHERITED COBALAMIN C DISORDER | Fernández-Láinez C Ibarra-González I Belmont-Martínez L Guillén-López S López-Mejía L Carrillo-Nieto RI Vela-Amieva M |
México | Organic Acidurias: Methyl Malonic acidemia and CblC | |
|
| P-115 | DIFFICULT DIAGNOSTIC METABOLIC ACIDURIA: CASE OF NOVEL MUTATION IDENTIFIED IN 3-METHYLGLUTACONIC ACIDURIA TYPE VII | Chávez-Pasco VG Caballero-Bedon NJ Bonilla-Suárez ACL Bazalar-Montoya JY Rodríguez RS Celis-García LE Franco KC Munayco-Perez AS Manassero-Morales GC |
Perú | Organic Acidurias: Methylglutaconic acidemia | |
|
| P-116 | 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE (MHBD) DEFICIENCY: TWO NEW CASES | Duran G Vildoso J |
Chile | Organic Acidurias: 2-Methyl 3-hydroxy butyric aciduria | |
|
| P-117 | DETECTION OF ORGANIC ACIDURIAS AND OTHER HEREDITARY METABOLIC DISEASES BY URINARY ORGANIC ACID ANALYSIS IN A 13-YEAR PERIOD IN BRAZIL | Ribeiro MG Fonseca JRH Micheletti C Fonseca AA |
Brasil | Organic Acidurias: Laboratory | |
|
| P-118 | DIFFERENCES BETWEEN URINARY ORGANIC ACIDS OF PATIENTS TREATED WITH L-DOPA VERSUS PATIENTS WITH AROMATIC AMINO ACID DECARBOXYLASE DEFICIENCY. | Velasquez-Rivas D Amartino H Fuertes A Sokn S Durand C |
Argentina | Organic Acidurias: Laboratory | |
