Literature DB >> 12913206

A neonatal form of glycogen storage disease type IV.

M Nambu1, K Kawabe, T Fukuda, T B Okuno, S Ohta, I Nonaka, H Sugie, I Nishino.   

Abstract

We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.

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Year:  2003        PMID： 12913206     DOI： 10.1212/01.wnl.0000073141.61695.b3

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  6 in total

1.  Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

Authors:  B Giuffrè; R Parini; T Rizzuti; L Morandi; O P van Diggelen; C Bruno; M Giuffrè; G Corsello; F Mosca
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

2.  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

3.  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

4.  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

5.  Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.

Authors:  Keiko Ichimoto; Tomoo Fujisawa; Masaru Shimura; Takuya Fushimi; Makiko Tajika; Ayako Matsunaga; Minako Ogawa-Tominaga; Nana Akiyama; Yuki Naruke; Hiroshi Horie; Tokiko Fukuda; Hideo Sugie; Ayano Inui; Kei Murayama
Journal:  Mol Genet Metab Rep       Date:  2020-05-18

6.  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
  6 in total

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