Your browser doesn't support javascript.
loading
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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-34427841
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Liver Failure, Acute / Hyperammonemia / Microcephaly / Neuroblastoma Type of study: Prognostic_studies Limits: Child / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: Poland
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Liver Failure, Acute / Hyperammonemia / Microcephaly / Neuroblastoma Type of study: Prognostic_studies Limits: Child / Humans Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2021 Type: Article Affiliation country: Poland