Literature DB >> 15520786

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

Andreas R Janecke1, Susanne Dertinger, Uwe-Peter Ketelsen, Lothar Bereuter, Burkhard Simma, Thomas Müller, Wolfgang Vogel, Felix A Offner.   

Abstract

The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.

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Year:  2004        PMID： 15520786     DOI： 10.1016/j.jpeds.2004.07.024

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  5 in total

1.  Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Authors:  Sing-Chung Li; Chiao-Ming Chen; Jennifer L Goldstein; Jer-Yuarn Wu; Emmanuelle Lemyre; Thomas Andrew Burrow; Peter B Kang; Yuan-Tsong Chen; Deeksha S Bali
Journal:  J Inherit Metab Dis       Date:  2010-01-08       Impact factor: 4.982

2.  Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Authors:  C Lamperti; S Salani; S Lucchiari; A Bordoni; M Ripolone; G Fagiolari; M E Fruguglietti; V Crugnola; C Colombo; A Cappellini; A Prelle; N Bresolin; G P Comi; M Moggio
Journal:  J Inherit Metab Dis       Date:  2009-04-08       Impact factor: 4.982

3.  Neuromuscular forms of glycogen branching enzyme deficiency.

Authors:  C Bruno; D Cassandrini; S Assereto; H Orhan Akman; C Minetti; S Di Mauro
Journal:  Acta Myol       Date:  2007-07

4.  A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Authors:  Bridget T Kiely; Rebecca L Koch; Leticia Flores; Danielle Burner; Samantha Kaplan; Priya S Kishnani
Journal:  Front Genet       Date:  2022-09-13       Impact factor: 4.772

5.  Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.

Authors:  Hiroyuki Iijima; Reiko Iwano; Yukichi Tanaka; Koji Muroya; Tokiko Fukuda; Hideo Sugie; Kenji Kurosawa; Masanori Adachi
Journal:  Mol Genet Metab Rep       Date:  2018-09-13
  5 in total

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