Literature DB >> 10905889

Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)

B Burwinkel, M S Tanner, M W Kilimann.   

Abstract

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Year:  2000        PMID： 10905889      PMCID： PMC1734590          DOI： 10.1136/jmg.37.5.376

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

Review 1.  Glycogen metabolism and glycogen storage disorders.

Authors:  Shibani Kanungo; Kimberly Wells; Taylor Tribett; Areeg El-Gharbawy
Journal:  Ann Transl Med       Date:  2018-12

2.  Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Authors:  Deeksha S Bali; Jennifer L Goldstein; Keri Fredrickson; Stephanie Austin; Surekha Pendyal; Catherine Rehder; Priya S Kishnani
Journal:  JIMD Rep       Date:  2017-03-12

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

Authors:  Deeksha S Bali; Jennifer L Goldstein; Keri Fredrickson; Catherine Rehder; Anne Boney; Stephanie Austin; David A Weinstein; Richard Lutz; Avihu Boneh; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2013-12-19       Impact factor: 4.797

Review 4.  Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Authors:  Buthainah Albash; Faiqa Imtiaz; Hamad Al-Zaidan; Hadeel Al-Manea; Mohammed Banemai; R Allam; Ali Al-Suheel; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2013-12-11       Impact factor: 3.183

Review 5.  Investigation and management of the hepatic glycogen storage diseases.

Authors:  Kaustuv Bhattacharya
Journal:  Transl Pediatr       Date:  2015-07
  5 in total

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