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Literature DB >> 12618563

Glycogen storage diseases.

Joseph I Wolfsdorf¹, David A Weinstein.

Abstract

Mesh：

Year: 2003 PMID： 12618563 DOI： 10.1023/a:1021831621210

Source DB: PubMed Journal: Rev Endocr Metab Disord ISSN： 1389-9155 Impact factor: 6.514

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13 in total

1. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Authors: M Veiga-da-Cunha; I Gerin; Y T Chen; P J Lee; J V Leonard; I Maire; U Wendel; M Vikkula; E Van Schaftingen
Journal: Eur J Hum Genet Date: 1999-09 Impact factor: 4.246

2. 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

Review 3. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Authors: J P Rake; A M ten Berge; G Visser; E Verlind; K E Niezen-Koning; C H Buys; G P Smit; H Scheffer
Journal: Eur J Pediatr Date: 2000-05 Impact factor: 3.183

4. 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

5. Measurement of "true" glucose production rates in infancy and childhood with 6,6-dideuteroglucose.

Authors: D M Bier; R D Leake; M W Haymond; K J Arnold; L D Gruenke; M A Sperling; D M Kipnis
Journal: Diabetes Date: 1977-11 Impact factor: 9.461

6. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease.

Authors: David A Weinstein; Joseph I Wolfsdorf
Journal: Eur J Pediatr Date: 2002-07-31 Impact factor: 3.183

7. 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

Review 8. Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy.

Authors: J I Wolfsdorf; I A Holm; D A Weinstein
Journal: Endocrinol Metab Clin North Am Date: 1999-12 Impact factor: 4.741

9. Metabolic control and renal dysfunction in type I glycogen storage disease.

Authors: J I Wolfsdorf; L M Laffel; J F Crigler
Journal: J Inherit Metab Dis Date: 1997-08 Impact factor: 4.982

10. Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Authors: K J Lei; L L Shelly; B Lin; J B Sidbury; Y T Chen; R C Nordlie; J Y Chou
Journal: J Clin Invest Date: 1995-01 Impact factor: 14.808

50 in total

1. Rab5 is necessary for the biogenesis of the endolysosomal system in vivo.

Authors: Anja Zeigerer; Jerome Gilleron; Roman L Bogorad; Giovanni Marsico; Hidenori Nonaka; Sarah Seifert; Hila Epstein-Barash; Satya Kuchimanchi; Chang Geng Peng; Vera M Ruda; Perla Del Conte-Zerial; Jan G Hengstler; Yannis Kalaidzidis; Victor Koteliansky; Marino Zerial
Journal: Nature Date: 2012-05-23 Impact factor: 49.962

2. Clinical evaluation of a portable lactate meter in type I glycogen storage disease.

Authors: A C Saunders; H A Feldman; C E Correia; D A Weinstein
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

3. Association of diffuse liver glycogenosis and mild focal macrovesicular steatosis in a patient with poorly controlled type 1 diabetes.

Authors: A Martocchia; M G Risicato; C Mattioli; M Antonelli; L Ruco; P Falaschi
Journal: Intern Emerg Med Date: 2008-02-09 Impact factor: 3.397

4. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.

Authors: Christiaan P Sentner; Yvonne J Vos; Klary N Niezen-Koning; Bart Mol; G Peter A Smit
Journal: JIMD Rep Date: 2012-03-16

5. Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient.

Authors: Christiaan P Sentner; Kadir Caliskan; Wim B Vletter; G Peter A Smit
Journal: JIMD Rep Date: 2011-12-13

6. Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase.

Authors: Buyun Tang; Mykhaylo S Frasinyuk; Vimbai M Chikwana; Krishna K Mahalingan; Cynthia A Morgan; Dyann M Segvich; Svitlana P Bondarenko; Galyna P Mrug; Przemyslaw Wyrebek; David S Watt; Anna A DePaoli-Roach; Peter J Roach; Thomas D Hurley
Journal: J Med Chem Date: 2020-03-23 Impact factor: 7.446