Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Heath, Oliver; Pandithan, Dinusha; Pitt, James; Savva, Elena; Raiti, Laura; Bracken, Jenny; Vandeleur, Moya; Delatycki, Martin B; Yaplito-Lee, Joy; Hardikar, Winita; Halligan, Rebecca

Heath, Oliver; Pandithan, Dinusha; Pitt, James; Savva, Elena; Raiti, Laura; Bracken, Jenny; Vandeleur, Moya; Delatycki, Martin B; Yaplito-Lee, Joy; Hardikar, Winita; Halligan, Rebecca.

Afiliación

Heath O; Department of Metabolic Medicine The Royal Children's Hospital Melbourne Australia.
Pandithan D; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.
Pitt J; Department of Metabolic Medicine The Royal Children's Hospital Melbourne Australia.
Savva E; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.
Raiti L; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.
Bracken J; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.
Vandeleur M; Department of Radiology The Royal Children's Hospital Melbourne Australia.
Delatycki MB; Department of Respiratory Medicine The Royal Children's Hospital Melbourne Australia.
Yaplito-Lee J; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.
Hardikar W; Department of Metabolic Medicine The Royal Children's Hospital Melbourne Australia.
Halligan R; Victorian Clinical Genetics Services Murdoch Children's Research Institute Melbourne Australia.

JIMD Rep ; 64(5): 337-345, 2023 Sep.

Article en En | MEDLINE | ID: mdl-37701323

Palabras clave

ABCD1; BAP31; BCAP31; CADSS; cholestasis; lungs; pancreas; peroxisomal

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: JIMD Rep Año: 2023 Tipo del documento: Article