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Literature DB >> 21857251

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

Abiodun O Johnson¹, Jennifer L Goldstein, Deeksha Bali.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Phosphorylase Kinase

Year: 2012 PMID： 21857251 DOI： 10.1097/MPG.0b013e31823276ea

Source DB: PubMed Journal: J Pediatr Gastroenterol Nutr ISSN： 0277-2116 Impact factor: 2.839

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Cited

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13 in total

1. 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

2. 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 3. 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

10. Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.

Authors: J Andres Morales; Christina G Tise; Amrita Narang; Paul C Grimm; Gregory M Enns; Chung U Lee
Journal: Mol Genet Metab Rep Date: 2021-05-01

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

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

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

Review 3. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

4. Aggressive therapy improves cirrhosis in glycogen storage disease type IX.

Review 5. Dosage Compensation in Females with X-Linked Metabolic Disorders.

6. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.

7. A new variant in PHKA2 is associated with glycogen storage disease type IXa.

Review 8. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.

9. Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.

10. Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2.