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Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five.
Cossette, Antoine; Castilloux, Julie; Bouffard, Chantal; Laflamme, Julie; Faure, Christophe; Benlamlih, Sami; Abel, Florian; Beecroft, Michael; Francis, Mira; Drouin, Régen.
Afiliação
  • Cossette A; ULaval, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
  • Castilloux J; Pediatric Gastroenterology Division, Department of Pediatrics, CHU de Québec - ULaval, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
  • Bouffard C; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, CHUS Research Center, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
  • Laflamme J; Pediatric Palliative Care Division, Department of Pediatrics, CHU de Québec - ULaval, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
  • Faure C; Pediatric Gastroenterology, Sainte-Justine Hospital, Montréal, Quebec, Canada.
  • Benlamlih S; ULaval, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
  • Abel F; Alexion Pharmaceuticals, Inc, Boston, Massachusetts, USA.
  • Beecroft M; Alexion Pharmaceuticals, Inc, Boston, Massachusetts, USA.
  • Francis M; Alexion Pharmaceuticals, Inc, Boston, Massachusetts, USA.
  • Drouin R; Division of Medical Genetics, Department of Pediatrics, CHU de Québec - ULaval, and Research Center of the CHU de Québec - ULaval, Faculty of Medicine, Université Laval, Quebec City, Quebec, Canada.
Can Liver J ; 5(3): 428-434, 2022 Aug.
Article em En | MEDLINE | ID: mdl-36133901
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Qualitative_research / Screening_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Qualitative_research / Screening_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article