Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

Author:

Santra Saikat,Cameron Jessie M.,Shyr Casper,Zhang Linhua,Drögemöller Britt,Ross Colin J.,Wasserman Wyeth W.,Wevers Ron A.,Rodenburg Richard J.,Gupte Girish,Preece Mary Anne,van Karnebeek Clara D.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

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2. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood;van Karnebeek;Am. J. Hum. Genet.,2014

3. The genotypic and phenotypic spectrum of PIGA deficiency;Tarailo-Graovac;Orphanet. J. Rare Dis.,2015

4. FLAGS, frequently mutated genes in public exomes;Shyr;BMC Med. Genet.,2014

5. Fast gapped-read alignment with Bowtie 2;Langmead;Nat. Methods,2012

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