Literature DB >> 19771425

Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases.

Andrew Del Gaizo1, Sima Banerjee, Michael Terk.   

Abstract

Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity (Tinkle andLeslie. GeneReviews, 2008. http://www.genetests.org). The condition is often classified by age of presentation,with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adulto nset GSDII, along with key Magnetic Resonance (MR) images.

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Year:  2009        PMID： 19771425     DOI： 10.1007/s00256-009-0797-4

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  19 in total

1.  Muscle MRI in adult-onset acid maltase deficiency.

Authors:  Anna Pichiecchio; Carla Uggetti; Sabrina Ravaglia; Maria Grazia Egitto; Miriam Rossi; Giorgio Sandrini; Cesare Danesino
Journal:  Neuromuscul Disord       Date:  2004-01       Impact factor: 4.296

Review 2.  Diagnosis of glycogenosis type II.

Authors:  B Bembi; E Cerini; C Danesino; M A Donati; S Gasperini; L Morandi; O Musumeci; G Parenti; S Ravaglia; F Seidita; A Toscano; A Vianello
Journal:  Neurology       Date:  2008-12-02       Impact factor: 9.910

3.  Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.

Authors:  F Martiniuk; A Chen; A Mack; E Arvanitopoulos; Y Chen; W N Rom; W J Codd; B Hanna; P Alcabes; N Raben; P Plotz
Journal:  Am J Med Genet       Date:  1998-08-27

4.  Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

Authors:  J M Van den Hout; A J Reuser; J B de Klerk; W F Arts; J A Smeitink; A T Van der Ploeg
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

Review 5.  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

Review 6.  Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Authors:  Nina Raben; Paul Plotz; Barry J Byrne
Journal:  Curr Mol Med       Date:  2002-03       Impact factor: 2.222

7.  Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.

Authors:  D F Pauly; D C Johns; L A Matelis; J H Lawrence; B J Byrne; P D Kessler
Journal:  Gene Ther       Date:  1998-04       Impact factor: 5.250

8.  MRI of normal and pathologic skeletal muscle.

Authors:  W A Murphy; W G Totty; J E Carroll
Journal:  AJR Am J Roentgenol       Date:  1986-03       Impact factor: 3.959

Review 9.  Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

Authors:  Benedikt Schoser; Victoria Hill; Nina Raben
Journal:  Neurotherapeutics       Date:  2008-10       Impact factor: 7.620

10.  Evaluation of the lumbar spine in patients with glycogen storage disease: CT demonstration of patterns of paraspinal muscle atrophy.

Authors:  J Cinnamon; A E Slonim; K S Black; M T Gorey; D M Scuderi; R A Hyman
Journal:  AJNR Am J Neuroradiol       Date:  1991 Nov-Dec       Impact factor: 3.825
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  5 in total

1.  Adult onset Pompe disease associated with multiple sclerosis.

Authors:  Maria Sepulveda; Elvira Munteis; Miguel A Rubio; Jordi Pascual; Jaume Roquer
Journal:  J Neurol       Date:  2011-05-26       Impact factor: 4.849

2.  Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.

Authors:  Agnieszka Różdżyńska-Świątkowska; Elżbieta Jurkiewicz; Anna Tylki-Szymańska
Journal:  JIMD Rep       Date:  2015-08-08

Review 3.  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Authors:  E I Parker; M Xing; A Moreno-De-Luca; E Harmouche; M R Terk
Journal:  Br J Radiol       Date:  2013-11-14       Impact factor: 3.039

4.  Regional variation of thigh muscle fat infiltration in patients with neuromuscular diseases compared to healthy controls.

Authors:  Tobias Greve; Egon Burian; Agnes Zoffl; Georg Feuerriegel; Sarah Schlaeger; Michael Dieckmeyer; Nico Sollmann; Elisabeth Klupp; Dominik Weidlich; Stephanie Inhuber; Maximilian Löffler; Federica Montagnese; Marcus Deschauer; Benedikt Schoser; Sarah Bublitz; Claus Zimmer; Dimitrios C Karampinos; Jan S Kirschke; Thomas Baum
Journal:  Quant Imaging Med Surg       Date:  2021-06

5.  Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

Authors:  Kai Michael Gruhn; Christoph Malte Heyer; Anne-Katrin Güttsches; Robert Rehmann; Volkmar Nicolas; Tobias Schmidt-Wilcke; Martin Tegenthoff; Matthias Vorgerd; Rudolf Andre Kley
Journal:  Mol Genet Metab Rep       Date:  2015-04-21
  5 in total

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