Niemann-Pick Disease Type C Diagnosed Using Neonatal Cholestasis Gene Panel.

Park, Sun Woo; Park, Ji Hong; Moon, Hye Jeong; Shin, Minsoo; Moon, Jin Soo; Ko, Jae Sung

Park, Sun Woo; Park, Ji Hong; Moon, Hye Jeong; Shin, Minsoo; Moon, Jin Soo; Ko, Jae Sung.

Afiliação

Park SW; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Park JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Moon HJ; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Shin M; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Moon JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Ko JS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

Korean J Gastroenterol ; 78(4): 240-244, 2021 10 25.

Article em En | MEDLINE | ID: mdl-34697279

Assuntos

Colestase; Hepatopatias; Doença de Niemann-Pick Tipo C; Criança; Colestase/diagnóstico; Colestase/genética; Colesterol; Humanos; Lactente; Recém-Nascido; Mutação; Doença de Niemann-Pick Tipo C/diagnóstico; Doença de Niemann-Pick Tipo C/genética

Palavras-chave

Cholestasis; Infant; Lysosomal storage diseases; NPC1; newborn

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Colestase / Doença de Niemann-Pick Tipo C / Hepatopatias Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Infant / Newborn Idioma: En Revista: Korean J Gastroenterol Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2021 Tipo de documento: Article

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