Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene-Reference-Cited by-同舟云学术

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene

Published:2014-03 Issue:3 Volume:111 Page:309-313
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bali Deeksha S.,Goldstein Jennifer L.,Fredrickson Keri,Rehder Catherine,Boney Anne,Austin Stephanie,Weinstein David A.,Lutz Richard,Boneh Avihu,Kishnani Priya S.

Funder

Association for Glycogen Storage Diseases, US

YT and Alice Chen Pediatric Genetics and Genomics Center at Duke

National Institutes of Health (NIH)/NCATS Clinical and Translational Science Award

Matthew's GSD Type IX Fund

Sturtz GSD Research Fund

Publisher

Elsevier BV

Subject

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

Reference36 articles.

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2. The family of glycogen phosphorylases: structure and function;Newgard;Crit. Rev. Biochem. Mol. Biol.,1989

3. Glycogen Storage Diseases Scriver's Online Metabolic and Molecular Bases of inherited Disease;Kishnani,2009

4. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure;Brushia;Front. Biosci.,1999

5. In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1;Winchester;Mol. Genet. Metab.,2007

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