Literature DB >> 16354226

A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1.

Fumio Hidaka1, Hirotake Sawada, Misayo Matsuyama, Hiroyuki Nunoi.   

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Year:  2005        PMID： 16354226     DOI： 10.1111/j.1442-200x.2005.02131.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  7 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

Review 2.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

3.  Does type I truly dominate hepatic glycogen storage diseases in Korea?: a single center study.

Authors:  Yu Ju Jeong; Ben Kang; So Yoon Choi; Chang-Seok Ki; Soo-Youn Lee; Hyung-Doo Park; Yon Ho Choe
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2014-12-31

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

Authors:  Rihwa Choi; Hyung-Doo Park; Ben Kang; So Yoon Choi; Chang-Seok Ki; Soo-Youn Lee; Jong-Won Kim; Junghan Song; Yon Ho Choe
Journal:  BMC Med Genet       Date:  2016-04-21       Impact factor: 2.103

Review 5.  Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.

Authors:  Qian Zhu; Xiao-Yu Wen; Ming-Yuan Zhang; Qing-Long Jin; Jun-Qi Niu
Journal:  Medicine (Baltimore)       Date:  2019-11       Impact factor: 1.817

6.  Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Authors:  Jung Ah Kim; Ja Hye Kim; Beom Hee Lee; Gu-Hwan Kim; Yoon S Shin; Han-Wook Yoo; Kyung Mo Kim
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2015-06-29

7.  Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.

Authors:  Melike Ersoy; Bulent Uyanik; Asuman Gedikbasi
Journal:  Genes (Basel)       Date:  2021-12-15       Impact factor: 4.096
  7 in total

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