作者:
Juliana Alves,Josahkian [1]
;
Ana Carolina,Brusius-Facchin [2]
;
Alice Brinckmann Oliveira,Netto [3]
;
Sandra,Leistner-Segal [3]
;
Diana Rojas,Málaga [4]
;
Maira Graeff,Burin [5]
;
Kristiane,Michelin-Tirelli [3]
;
Franciele Barbosa,Trapp [4]
;
Augusto César,Cardoso-Dos-Santos [3]
;
Erlane Marques,Ribeiro [6]
;
Chong Ae,Kim [3]
;
Ana Cecília Menezes,de Siqueira [3]
;
Mara Lucia,Santos [3]
;
Daniel Almeida,do Valle [2]
;
Raquel Tavares Boy,da Silva [4]
;
Dafne Dain Gandelman,Horovitz [7]
;
Paula Frassinetti Vasconcelos,de Medeiros [8]
;
Carolina Fischinger Moura,de Souza [9]
;
Liane de Rosso,Giuliani [10]
;
Diego Santana Chaves Geraldo,Miguel [10]
;
Luiz Carlos,Santana-da-Silva [11]
;
Marcial Francis,Galera [12]
;
Roberto,Giugliani [13]
作者单位:
Department of Clinical Medicine, Hospital Universitário de Santa Maria (HUSM), Santa Maria, Rio Grande do Sul, Brazil.
[1]
Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
[2]
Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil.
[3]
National Institute on Population Medical Genetics, INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil.
[4]
Graduate in Biological Sciences, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
[5]
Research and Development, Grupo Fleury, São Paulo, São Paulo, Brazil.
[6]
Serviço de Genética Médica, Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil.
[7]
Genetic Unit, Pediatric Department, HC-FMUSP, São Paulo University, São Paulo, São Paulo, Brazil.
[8]
Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Recife, Pernambuco, Brazil.
[9]
Neuropediatric Division, Hospital Pequeno Príncipe, Curitiba, Paraná, Brazil.
[10]
State University of Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil.
[11]
Medical Genetics Department, National Institute of Women, Children and Adolescents Health Fernandes Figueira-Fiocruz/Reference Center for Rare Diseases, Rio de Janeiro, Rio de Janeiro, Brazil.
[12]
Unidade Acadêmica de Medicina, Hospital Universitário Alcides Carneiro, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil.
[13]
Hospital Universitário Maria Aparecida Pedrossian (HUMAP), UFMS, Campo Grande, Mato Grosso do Sul, Brazil.
[14]
Escola Bahiana de Medicina e Saúde Pública, Salvador, Bahia, Brazil.
[15]
Laboratory of Innate Errors of Metabolism, Institute of Biological Sciences, Federal University of Pará, Belém, Pará, Brazil.
[16]
Department of Pediatrics, Faculty of Medicine, Federal University of Mato Grosso, Cuiabá, Mato Grosso, Brazil.
[17]
Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
[18]
DOI
10.1002/ajmg.c.31915
PMID
33960103
发布时间
2022-04-11