第一单位：
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
作者：
Leonardo,Simão Medeiros [1]
;
Lucas Ferreira,Teixeira [2]
;
Alexandra,Gomes [3]
;
Isabel,Rivera [3]
;
Cláudia Fernandes,Lorea [4]
;
Lilia,Farret [5]
;
Kristiane Michelin,Tirelli [5]
;
Fernanda Medeiros,Sebastião [5]
;
Fernanda Bender,Pasetto [5]
;
Carolina Fischinger Moura,de Souza [6]
;
Fabiano,de Oliveira Poswar [1]
;
Raquel Borges,Pinto [7]
;
Mariana,Marcano-Ruiz [8]
;
Fernanda,Sperb-Ludwig [9]
;
Sandra Maria,Vieira [10]
;
Lavínia,Schuler-Faccini [1]
;
Ida Vanessa Doederlein,Schwartz [11]
作者单位：
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
[1]
School of Medicine, Universidade Federal do Rio Grande do Sul, RS, Brazil.
[2]
Metabolism and Genetics Group, Research Institute for Medicines (iMed.UL), Faculty of Pharmacy, Universidade de Lisboa, Portugal; Department of Biochemistry and Human Biology, Faculty of Pharmacy, Universidade de Lisboa, Portugal.
[3]
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil.
[4]
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
[5]
Clinical Research Service, Hospital de Clínicas de Porto Alegre, RS, Brazil; Casa dos Raros, Porto Alegre, Brazil.
[6]
Department of Pediatric Gastroenterology & Hepatology, Hospital Criança Conceição do Grupo Hospitalar Conceição, RS, Brazil.
[7]
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil; BRAIN Laboratory - Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil.
[8]
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil; BRAIN Laboratory - Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul, RS, Brazil.
[9]
Department of Pediatrics, School of Medicine, Universidade Federal do Rio Grande do Sul, RS, Brazil.
[10]
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil; BRAIN Laboratory - Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul, RS, Brazil; Instituto Nacional de Ciência e Tecnologia em Doenças Raras, InRaras, Porto Alegre, RS, Brazil.. Electronic address: ischwartz@hcpa.edu.br.
[11]
DOI
10.1016/j.ymgme.2025.109173
PMID
40513497
发布时间
2025-07-30
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