Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.

Rodriguez-Gil, Jorge L; Bianconi, Simona E; Farhat, Nicole; Kleiner, David E; Nelson, Marie; Porter, Forbes D

Rodriguez-Gil, Jorge L; Bianconi, Simona E; Farhat, Nicole; Kleiner, David E; Nelson, Marie; Porter, Forbes D.

Afiliación

Rodriguez-Gil JL; Genomics, Development and Disease Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Bianconi SE; Medical Scientist Training Program, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA.
Farhat N; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Kleiner DE; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Nelson M; Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Porter FD; Center for Cancer and Blood Disorders, Children's National Hospital and the George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Am J Med Genet A ; 185(10): 3111-3117, 2021 10.

Article en En | MEDLINE | ID: mdl-34138521

Asunto(s)

Carcinoma Hepatocelular/genética; Neoplasias Hepáticas/genética; Proteína Niemann-Pick C1/genética; Enfermedad de Niemann-Pick Tipo C/complicaciones; Enfermedad de Niemann-Pick Tipo C/genética; Carcinoma Hepatocelular/etiología; Carcinoma Hepatocelular/patología; Niño; Colesterol/genética; Endosomas/genética; Humanos; Neoplasias Hepáticas/etiología; Neoplasias Hepáticas/patología; Lisosomas/genética; Masculino; Glicoproteínas de Membrana/genética; Mutación; Enfermedad de Niemann-Pick Tipo C/patología

Palabras clave

NPC1; Niemann-Pick disease type C; hepatocellular carcinoma

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Carcinoma Hepatocelular / Enfermedad de Niemann-Pick Tipo C / Proteína Niemann-Pick C1 / Neoplasias Hepáticas Tipo de estudio: Etiology_studies Límite: Child / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

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