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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
Lipinski, Patryk; Greczan, Milena; Piekutowska-Abramczuk, Dorota; Jurkiewicz, Elzbieta; Bakula, Agnieszka; Socha, Piotr; Jankowska, Irena; Rokicki, Dariusz; Tylki-Szymanska, Anna.
Afiliação
  • Lipinski P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730, Warsaw, Poland. p.lipinski@ipczd.pl.
  • Greczan M; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730, Warsaw, Poland.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
  • Bakula A; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Socha P; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Jankowska I; Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland.
  • Rokicki D; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730, Warsaw, Poland.
  • Tylki-Szymanska A; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, al. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Metab Brain Dis ; 36(7): 2169-2172, 2021 10.
Article em En | MEDLINE | ID: mdl-34427841
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Hiperamonemia / Microcefalia / Neuroblastoma Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Hiperamonemia / Microcefalia / Neuroblastoma Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia País de publicação: Estados Unidos