Literature DB >> 16601899

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.

D H J Martens1, T W Kuijpers, N A Maianski, J P Rake, G P A Smit, G Visser.   

Abstract

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

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Year:  2006        PMID： 16601899     DOI： 10.1007/s10545-006-0146-x

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  4 in total

1.  Glycogen storage disease type Ib without neutropenia.

Authors:  S Kure; D C Hou; Y Suzuki; A Yamagishi; M Hiratsuka; T Fukuda; H Sugie; N Kondo; Y Matsubara; K Narisawa
Journal:  J Pediatr       Date:  2000-08       Impact factor: 4.406

2.  Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

Authors:  G Visser; J P Rake; J Fernandes; P Labrune; J V Leonard; S Moses; K Ullrich; G P Smit
Journal:  J Pediatr       Date:  2000-08       Impact factor: 4.406

3.  Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

Authors:  B W Weston; J L Lin; J Muenzer; H S Cameron; R R Arnold; H H Seydewitz; E Mayatepek; E Van Schaftingen; M Veiga-da-Cunha; D Matern; Y T Chen
Journal:  Pediatr Res       Date:  2000-09       Impact factor: 3.756

4.  Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

Authors:  Taco W Kuijpers; Nikolai A Maianski; Anton T J Tool; G Peter A Smit; Jan Peter Rake; Dirk Roos; Gepke Visser
Journal:  Blood       Date:  2003-02-06       Impact factor: 22.113
  4 in total
  8 in total

Review 1.  Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  Nat Rev Endocrinol       Date:  2010-10-26       Impact factor: 43.330

Review 2.  Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878

Review 3.  The SLC37 family of phosphate-linked sugar phosphate antiporters.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  Mol Aspects Med       Date:  2013 Apr-Jun

Review 4.  Neutropenia in type Ib glycogen storage disease.

Authors:  Janice Y Chou; Hyun S Jun; Brian C Mansfield
Journal:  Curr Opin Hematol       Date:  2010-01       Impact factor: 3.284

Review 5.  Glucose-6-phosphatase deficiency.

Authors:  Roseline Froissart; Monique Piraud; Alix Mollet Boudjemline; Christine Vianey-Saban; François Petit; Aurélie Hubert-Buron; Pascale Trioche Eberschweiler; Vincent Gajdos; Philippe Labrune
Journal:  Orphanet J Rare Dis       Date:  2011-05-20       Impact factor: 4.123

6.  Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

Authors:  Marcelo Paschoalete Carlin; Daniel Zanetti Scherrer; Adriana Maria Alves De Tommaso; Carmen Silvia Bertuzzo; Carlos Eduardo Steiner
Journal:  Genet Mol Biol       Date:  2013-11-08       Impact factor: 1.771

7.  Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).

Authors:  Maryam Eghbali; Maryam Abiri; Saeed Talebi; Zahra Noroozi; Marjan Shakiba; Parastoo Rostami; Hosein Alimadadi; Mehri Najafi; Fatemeh Yazarlou; Ali Rabbani; Mohammad Hossein Modarressi
Journal:  Orphanet J Rare Dis       Date:  2020-01-31       Impact factor: 4.123

Review 8.  The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.

Authors:  Anna Rita Cappello; Rosita Curcio; Rosamaria Lappano; Marcello Maggiolini; Vincenza Dolce
Journal:  Front Chem       Date:  2018-04-17       Impact factor: 5.221
  8 in total

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