Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Autor: Borsatto T; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Sperb-Ludwig F; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil., Lima SE; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.; Centro Universitário Ritter dos Reis, Porto Alegre, RS, Brazil., S Carvalho MR; Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., S Fonseca PA; Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil., S Camelo J Jr; Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., M Ribeiro E; Hospital Infantil Albert Sabin, Fortaleza, CE, Brazil., F V de Medeiros P; Universidade Federal de Campina Grande, Campina Grande, PB, Brazil., M Lourenço C; Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil., F M de Souza C; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., Boy R; Departamento de Pediatria, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil., Félix TM; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., M Bittar C; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil., L C Pinto L; Hospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil., C Neto E; CTN Diagnósticos, Porto Alegre, RS, Brazil., J Blom H; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany., D Schwartz IV; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.; BRAIN Laboratory, Center for Experimental Research (CPE), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.; Medical Genetics Service, HCPA, Porto Alegre, RS, Brazil.

Publikováno v: PloS one [PLoS One] 2017 May 12; Vol. 12 (5), pp. e0177503. Date of Electronic Publication: 2017 May 12 (Print Publication: 2017).