Literature DB >> 12373585

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

Gepke Visser1, Jan Peter Rake, Philippe Labrune, James V Leonard, Shimon Moses, Kurt Ullrich, Udo Wendel, G Peter A Smit.   

Abstract

UNLABELLED: Life expectancy in glycogen storage disease type 1 (GSD-1) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and therefore experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment. Based on data from the European Study on Glycogen Storage Disease Type 1, discussions within this study group together with those at the International SHS Symposium 'Glycogen Storage Disease Type I and II: Recent Developments, Management and Outcome', Fulda, Germany (2000) and on data from the literature, a series of guidelines were drawn up.
CONCLUSION: the following guidelines for the management of patients with glycogen storage disease type 1b are in addition to those general guidelines for glycogen storage disease type 1 and address specific problems related to neutropenia and neutrophil dysfunction.

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Year:  2002        PMID: 12373585     DOI: 10.1007/s00431-002-1017-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  29 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

2.  Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

Authors:  Daniela Melis; Giorgia Minopoli; Francesca Balivo; Paola Marcolongo; Rossella Parini; Sabrina Paci; Carlo Dionisi-Vici; Roberto Della Casa; Angelo Benedetti; Generoso Andria; Giancarlo Parenti
Journal:  JIMD Rep       Date:  2015-06-30

3.  The use of continuous glucose monitoring in the practical management of glycogen storage disorders.

Authors:  Fiona J White; Simon A Jones
Journal:  J Inherit Metab Dis       Date:  2011-05-10       Impact factor: 4.982

4.  Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib.

Authors:  Alix Mollet Boudjemline; Arnaud Isapof; Jean-Bernard Witas; François M Petit; Vincent Gajdos; Philippe Labrune
Journal:  J Inherit Metab Dis       Date:  2010-11-20       Impact factor: 4.982

5.  Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Authors:  David C Dale; Audrey Anna Bolyard; Tracy Marrero; Merideth L Kelley; Vahagn Makaryan; Emily Tran; Jamie Leung; Laurence A Boxer; Priya S Kishnani; Stephanie Austin; Corbinian Wanner; Iris A Ferrecchia; Dina Khalaf; Dawn Maze; Joanne Kurtzberg; Cornelia Zeidler; Karl Welte; David A Weinstein
Journal:  Curr Opin Hematol       Date:  2019-01       Impact factor: 3.284

6.  A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.

Authors:  Raajiv Prasad; Jane Estrella; John Christodoulou; Geoffrey McKellar; Michel C Tchan
Journal:  JIMD Rep       Date:  2017-11-09

7.  Quality of life in adult patients with glycogen storage disease type I: results of a multicenter italian study.

Authors:  Annalisa Sechi; Laura Deroma; Sabrina Paci; Annunziata Lapolla; Francesca Carubbi; Alberto Burlina; Miriam Rigoldi; Maja Di Rocco
Journal:  JIMD Rep       Date:  2013-12-21

8.  Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib.

Authors:  M K Davis; P A Rufo; S F Polyak; D A Weinstein
Journal:  J Inherit Metab Dis       Date:  2008-01-05       Impact factor: 4.982

9.  Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.

Authors:  D Melis; R Della Casa; R Parini; M Rigoldi; C Cacciapuoti; P Marcolongo; A Benedetti; V Gaudieri; G Andria; G Parenti
Journal:  Eur J Pediatr       Date:  2008-12-09       Impact factor: 3.183

Review 10.  Investigation and management of the hepatic glycogen storage diseases.

Authors:  Kaustuv Bhattacharya
Journal:  Transl Pediatr       Date:  2015-07
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