A case of hyperlysinemia identified by urine newborn screening.

Yeganeh, Mehdi; Auray-Blais, Christiane; Maranda, Bruno; Sabovic, Amanda; DeVita, Robert J; Lazarus, Michael B; Houten, Sander M

Yeganeh, Mehdi; Auray-Blais, Christiane; Maranda, Bruno; Sabovic, Amanda; DeVita, Robert J; Lazarus, Michael B; Houten, Sander M.

Afiliação

Yeganeh M; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Centre Hospitalier Universitaire de Québec, Centre Mère-Enfant Soleil Université Laval Québec City Québec Canada.
Auray-Blais C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche-CIUSSS de l'Estrie-CHUS Université de Sherbrooke Sherbrooke Québec Canada.
Maranda B; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Centre de recherche-CIUSSS de l'Estrie-CHUS Université de Sherbrooke Sherbrooke Québec Canada.
Sabovic A; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA.
DeVita RJ; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA.
Lazarus MB; Drug Discovery Institute Icahn School of Medicine at Mount Sinai New York New York USA.
Houten SM; Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA.

JIMD Rep ; 64(6): 440-445, 2023 Nov.

Article em En | MEDLINE | ID: mdl-37927488

Palavras-chave

aminoaciduria; ascertainment bias; lysine; newborn screening; sampling bias; substrate reduction therapy

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google