Literature DB >> 10078739

A diagnostic protocol for adult-onset glycogen storage disease type II.

M G Ausems1, P Lochman, O P van Diggelen, H K Ploos van Amstel, A J Reuser, J H Wokke.   

Abstract

To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a clinical, biochemical, and genetic study of 18 patients with this disease. Measurement of acid alpha-glucosidase (GAA) activity in muscle and histopathologic analysis of muscle tissue appeared to have no additional value when GAA activity in leukocytes was clearly deficient. Our study showed that creatine kinase elevation is a sensitive marker of GSD II. A diagnostic protocol is formulated.

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Year:  1999        PMID： 10078739     DOI： 10.1212/wnl.52.4.851

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


  13 in total

1.  A point mutation in the UDP-glucose pyrophosphorylase gene results in decreases of UDP-glucose and inactivation of glycogen synthase.

Authors:  Juan-Carlos Higuita; Alberto Alape-Girón; Monica Thelestam; Abram Katz
Journal:  Biochem J       Date:  2003-03-15       Impact factor: 3.857

2.  Seven cases of Pompe disease from Greece.

Authors:  M Kroos; P Manta; I Mavridou; F Muntoni; D Halley; R Van der Helm; D Zaifeiriou; A Van der Ploeg; A Reuser; H Michelakakis
Journal:  J Inherit Metab Dis       Date:  2006-08       Impact factor: 4.982

3.  Isolated elevated serum transaminases leading to the diagnosis of asymptomatic Pompe disease.

Authors:  Marieke Hoeksma; Maartje Boon; Klary E Niezen-Koning; Lidy van Overbeek-van Gils; Francjan J van Spronsen
Journal:  Eur J Pediatr       Date:  2006-10-17       Impact factor: 3.183

Review 4.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

5.  Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.

Authors:  Laura Deroma; Mattia Guerra; Annalisa Sechi; Giovanni Ciana; Giorgia Cisilino; Andrea Dardis; Bruno Bembi
Journal:  Eur J Pediatr       Date:  2014-01-07       Impact factor: 3.183

Review 6.  Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Authors:  Gauthier Remiche; Dario Ronchi; Francesca Magri; Costanza Lamperti; Andreina Bordoni; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi
Journal:  J Neurol       Date:  2013-10-25       Impact factor: 4.849

Review 7.  Consensus treatment recommendations for late-onset Pompe disease.

Authors:  Edward J Cupler; Kenneth I Berger; Robert T Leshner; Gil I Wolfe; Jay J Han; Richard J Barohn; John T Kissel
Journal:  Muscle Nerve       Date:  2011-12-15       Impact factor: 3.217

Review 8.  Glycogen storage diseases: new perspectives.

Authors:  Hasan Ozen
Journal:  World J Gastroenterol       Date:  2007-05-14       Impact factor: 5.742

9.  Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

Authors:  Mohammad Zouheir Habbal; Tarek Bou Assi; Hicham Mansour
Journal:  BMJ Case Rep       Date:  2013-04-29

10.  Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.

Authors:  Nadine A M E van der Beek; Juna M de Vries; Marloes L C Hagemans; Wim C J Hop; Marian A Kroos; John H J Wokke; Marianne de Visser; Baziel G M van Engelen; Jan B M Kuks; Anneke J van der Kooi; Nicolette C Notermans; Karin G Faber; Jan J G M Verschuuren; Arnold J J Reuser; Ans T van der Ploeg; Pieter A van Doorn
Journal:  Orphanet J Rare Dis       Date:  2012-11-12       Impact factor: 4.123
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