Certificados Posters

Pósters de Errores Innatos del Metabolismo

Orden	Título	Autores	País	Tema	DESCARGAR CERTIFICADO
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
P-026	ORNITHINE-TRANSCARBAMYLASE DEFICIENCY IN FEMALE PATIENTS. A CASE REPORT.	Sotillo-Lindo JF Samudio-Vega A	Panamá	Amino Acid Disorders: OTC Deficiency
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
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
P-031	ALKAPTONURIA: CLINICAL CASE AND NEW MUTATION REPORT	Márquez-Peñaranda WR Mejia N Pino S Diaz A	Colombia	Amino Acid Disorders: Alkaptonuria
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
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
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
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
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
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
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
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
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
P-042	MENKES DISEASE: BETWEEN SUSPICION AND DISTRACTORS.	Coronel C Pedersoli M Navacchia D Durand C	Argentina	Disorders of vitamins, cofactors and trace elements
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
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
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
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
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
P-053	THE CRYPTOLOGY OF DISEASE. HOW WE LEARNED TO DECODE AND CORRECT INHERITED DISEASES.	Barrera-Avellaneda LA	Colombia	Inborn Errors of Metabolism: Education
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
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
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
P-057	NEPHROPATIC CYSTINOSIS IN THE DOMINICAN REPUBLIC: CASE REPORT.	Almonte-Taveras M Guzman RCA Rodriguez C	República Dominicana	Lysosomal disorders: Others
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
P-059	AN UNUSUAL DIAGNOSIS: 2 CASES OF SALLA DISEASE	Mena R Calderón M Familia CL	República Dominicana	Lysosomal disorders: Others
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
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
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
P-063	GENOME EDITING IN MUCOPOLYSACCHARIDOSIS FIBROBLASTS USING CRISPR-CAS9	Suárez DA Alméciga-Diaz CJ	Colombia	Lysosomal disorders: MPS, oligosaccharidoses
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
P-065	HURLER'S SYNDROME: A CASE REPORT	Ortiz IY Báez K Acevedo N Noboa J	República Dominicana	Lysosomal disorders: MPS, oligosaccharidoses
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-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-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-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-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

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Pósters Pesquisa Neonatal

Orden	Título	Autores	País	Tema	DESCARGAR CERTIFICADO
P-120	PREVALENCE OF CONGENITAL HYPOTHYROIDISM IN NEWBORNS IN THE STATE OF YUCATÁN, MÉXICO.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Centeno-Navarrete YA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Canche-Bacab LF Burgos-Lizama JY	México	Congenital Hypothyroidism
P-121	PREVALENCE OF HYPERTHYROTROPINEMIA IN NEWBORNS IN THE STATE OF YUCATAN, MEXICO.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Centeno-Navarrete YA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Canche-Bacab LF Cardeña-Carballo ZM	México	Congenital Hypothyroidism
P-123	INCIDENCE AND COVERAGE OF SCREENING FOR CONGENITAL HYPOTHYROIDISM IN THE PERIOD OCTOBER 2003 TO DECEMBER 2021 IN THE “INSTITUTO NACIONAL MATERNO PERINATAL”, LIMA –PERU	Zumaeta RR Luján CR Salcedo F Santiago GG Rodríguez K	Perú	Congenital Hypothyroidism
P-124	EVALUATION OF IODINE NUTRITIONAL STATUS IN PREGNANT WOMEN AND THEIR NEWBORNS WITHIN NEONATAL SCREENING PROGRAM FOR CONGENITAL HYPOTHYROIDISM IN NICARAGUA	Fúnez A Chévez AC Castellón EA Lara M E Toro MJ Montoya E Moreno JC	Nicaragua	Congenital Hypothyroidism
P-125	EPIDEMIOLOGICAL PROFILE, CLINICAL AND BIOCHEMICAL ASPECTS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AT THE DR. AGUSTÍN O´HORÁN GENERAL HOSPITAL	Contreras-Pantoja BA Centeno-Navarrete YA Contreras-Capetillo SN Manrique-Canche DA Canche-Bacab LF	México	Congenital Adrenal Hyperplasia
P-126	CONGENITAL ADRENAL HYPERPLASIA, BEFORE AND AFTER NEONATAL SCREENING. 13 YEARS OF EXPERIENCE IN SANTA CRUZ - BOLIVIA	Seoane B Suárez S	Bolivia	Congenital Adrenal Hyperplasia
P-127	NEWBORN SCREENING PROGRAM FOR CYSTIC FIBROSIS IN CUBA USING THE ULTRAMICROANALYTICAL SYSTEM: TWO YEAR´S EXPERIENCE	Castells-Martínez EM Sánchez-Gutiérrez A Frómeta-Suárez A Moksde Y Silva E Rodríguez F Collazo-Mesa T Santos E Ozunas N Arteaga AL	Cuba	Cystic Fibrosis
P-128	10 YEARS OF NEWBORN SCREENING FOR CYSTIC FIBROSIS IN URUGUAY	Machado M Corbo L Méndez MS Soria A Rangoni P Queijo C	Uruguay	Cystic Fibrosis
P-129	EXPERIENCE OF A MULTIDISCIPLINARY MANAGEMENT UNIT IN PATIENTS WITH CYSTIC FIBROSIS IN THE DOMINICAN REPUBLIC.	Cordero LA Casado S Garcia M Almanzar F Lynch J Cruz RJ Espaillat C Tabar A	República Dominicana	Cystic Fibrosis
P-130	PARENTAL NEEDS FOR LEARNING ABOUT THE MANAGEMENT OF CYSTIC FIBROSIS. BASELINE FOR THE DEVELOPMENT OF A SUPPORT PROGRAM.	Lynch J Casado S Garcia M Almanzar F Cruz RJ Espaillat C Tabar A Cordero LA	República Dominicana	Cystic Fibrosis
P-131	A CYSTIC FIBROSIS CASE WITH 3 NON-CLASSIC MUTATIONS AND PSEUDO BARTTER SYNDROME: IMPORTANCE OF AN ADEQUATE DIAGNOSIS STRATEGY	Canche-Bacab LF Maldonado-Solís FA Sauri M Hernández-Fuentes CI Ademar-Zaldívar J Montalvo MZ Quiñones-Pacheco YB Contreras-Capetillo SN Canche EA	México	Cystic Fibrosis
P-132	CYSTIC FIBROSIS MOLECULAR DIAGNOSIS IN CUBA: 30 YEARS OF EXPERIENCE	Collazo-Mesa T Santos EN López I Gómez M Hernández Y Rodríguez F	Cuba	Cystic Fibrosis
P-133	MOLECULAR AND BIOINFORMATIC CHARACTERIZATION OF GENOMIC VARIANTS OF THE GALT GENE IN PATIENTS IN SOUTHWESTERN COLOMBIA	Viafara-Belalcazar JD Moreno-Giraldo LJ Arturo-Terranova D Satizabal-Soto JM	Colombia	Galactosemia
P-134	IMPORTANCE OF EARLY IDENTIFICATION OF CLASSICAL GALACTOSEMIA: REPORT OF THE FIRST CASE BY CLINICAL WHOLE GENOME SEQUENCING IN PERU	Bazalar-Montoya JY Rodríguez RS Bonilla-Suárez ACL Chávez-Pasco VG Celis-García LE Franco KC Chandrasekhar A Kesari K Taft RJ Manassero-Morales GC	Perú	Galactosemia
P-135	QUANTITATIVE ASSAY FOR DETERMINATING BIOTINIDASE DEFICIENCY IN DRIED BLOOD SPOTS ON FILTER PAPER	Espinosa M Aldir B Frómeta-Suárez A Castells-Martínez EM Martín O Del Río-Fabré L Pérez PL Almira C Nuñez Z Quintero A	Cuba	Biotinidase Deficiency
P-136	COMPARISON BETWEEN TWO ANALYTICAL METHODS OF MEASUREMENT FOR THE NEWBORN SCREENING OF MAPLE SYRUP URINE DISEASE	Guercio AM Castro B Lobato V Pérez M Pirri M Vergara AN Biscardi M	Argentina	MSUD
P-137	MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCADD): NEWBORN SCREENING RESULTS IN URUGUAY	Méndez MS González F Zabala C Machado M Segovia B González V Astapenco V Lemes A Queijo C	Uruguay	Fatty Acids Oxidation Defects
P-138	PRELIMINARY INCIDENCE OF STRUCTURAL HEMOGLOBINOPATHIES IN GUATEMALA	Albanés EJ Jacinto AC Chiroy AS Gaitán IC Tzorín PA	Guatemala	Hemoglobinopathies
P-139	KNOWLEDGE AND ATTITUDES ABOUT SICKLE CELL DISEASE IN CAREGIVERS WITH AFFECTED CHILDREN IN THE HEMATOLOGY OUTPATIENT CLINIC OF A TERTIARY CARE HOSPITAL IN A DEVELOPING COUNTRY.	Vega JC Nieves RM Gómez V	República Dominicana	Hemoglobinopathies
P-140	HYDROXIUREA EFFECTIVENESS AND ADHERENCE IN CHILDREN AND ADOLESCENTS WITH SICKLE CELL ANEMIA	Vega JC Nieves RM	República Dominicana	Hemoglobinopathies
P-141	ACTIONS FOR THE PREVENTION OF SICKLE-CELL DISEASE IN ADOLESCENTS AGED 10-18 IN THE DOMINICAN REPUBLIC, 2009-2019	Cornielle-Dipré AR Hernández AA Mendoza AC Ramírez JA Jáquez FA Alberto MR Santana M Severino C Jáquez M	República Dominicana	Hemoglobinopathies
P-143	APPROACH TO DIAGNOSIS IN POSITIVE NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY IN PUERTO RICO: UNDERSTANDING PHENOTYPE AND GENOTYPE CORRELATIONS DURING FIVE-YEAR	Albino E Rivera-Sanchez S Ramos C	Puerto Rico	SCID
P-144	QUANTIFICATION OF THE BIOMARKERS LYSOSPHINGOMYELIN AND LYSOSPHINGOMYELIN-509 BY UPLC-MS/MS FOR THE SCREENING OF ACID SPHINGOMYELINASE DEFICIENCY (ASMD)	Iop GD Faqueti L Kubaski F Pereira D Trapp FB Tirelli KM Burin MG Civallero GE Soares J Giugliani R	Brasil	Lysosomal Storage Disorders
P-145	NEWBORN SCREENING FOR METACHROMATIC LEUKODYSTROPHY IN NORTHERN GERMANY	Oliva P Mechtler T Schwarz M Streubel B Chanson C Essing M Janzen N Kasper D	Austria	New Disorders
P-146	ANALYTICAL VALIDATION AND POPULATION EVALUATION OF THE AUTOMATED ARCHITECT TSH CHEMILUMINESCENT MICROPARTICLE IMMUNOASSAY (CMIA) FROM ABBOTT ADAPTED TO BE USED IN NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM	Borrajo GJC	Argentina	Methods Validation
P-147	PERFORMANCE EVALUATION OF A MULTIPLEX KIT FOR THE SIMULTANEOUS DETECTION OF IGM ANTIBODIES AGAINST TOXOPLASMA, RUBELLA AND HUMAN CYTOMEGALOVIRUS	Almeida RMS Ogawa GM Monteiro AM Sampaio CA	Brasil	New Technologies
P-148	EXPANDED NEONATAL SCREENING PROGRAM IN THE MEXICAN ARMY HEALTH SERVICES. AN EXPERIENCE OF 8 YEARS.	García-Martínez E Terán-Montiel L Rodríguez-Bazaldua JA Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Quintero-Rodríguez GI Arias-Vidal CE Hernández-Pérez H Rosique-Hipólito NT	México	Expanded NBS
P-149	FIRST PRELIMINARY STUDY ON EXPANDED NEONATAL SCREENING OF INBORN ERRORS OF METABOLISM USING TANDEM MASS SPECTROMETRY (MS/MS) IN COLOMBIA	Rosero B Perafan KA Rincon J Cocho JA Colon C Lemes MC Cifuentes Y Herrera S Arevalo M	Colombia	Expanded NBS
P-150	NEONATAL SCREENING OF INBORN ERRORS OF METABOLISM THROUGH TANDEM MASS SPECTROMETRY IN YUCATAN, MEXICO: A 14 YEARS EXPERIENCE.	Sauri-Vivas M Hernández-Fuentes CI Ademar-Zaldívar J Contreras-Capetillo SN Quiñones-Pacheco YB Maldonado-Solís FA Moreno-Graciano CM Herrera-Pérez LA Canche-Bacab LF Arias-Vidal CE	México	Expanded NBS
P-152	DETECTION OF NEWBORNS IN THE NEONATAL SCREENING PROGRAM OF THE HEALTH SERVICES OF THE MEXICAN NAVY: AN EXPERIENCE OF 9 YEARS.	De-la-Torre-García O Mar-Aldana R Santiago-Pérez AL Salgado-Sangri RE Fernández-Luna CP Herrera-Pérez LA Moreno-Graciano CM Quintero-Rodríguez GI Burgos-Lizama JY Cardeña-Carballo ZM	México	NBS Programs Description
P-153	PILOT PLAN FOR IMPROVEMENT OF NEWBORN SCREENING SAMPLES TRANSPORTATION IN COSTA RICA	Muñoz I Obando SO Jiménez M Saborío M	Costa Rica	NBS Programs Description
P-155	VIRTUAL TRAINING AND FOLLOW-UP SURVEILLANCE TO NEONATAL SCREENING COLLECTION CENTERS DURING THE COVID 19 PANDEMIC YEARS 2020-2021.	Vargas JL Barrantes K Obando SO Jiménez M Saborío M	Costa Rica	NBS Programs and Covid
P-157	PROPOSAL OF INFORMATIVE MATERIAL FOR THE NEWBORN SCREENING PROGRAM IN GUATEMALA.	Tzorín PA Morales LA Lemus GA Albanés EJ	Guatemala	Education

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