Literature DB >> 25037089

Pompe disease: literature review and case series.

Majed Dasouki1, Omar Jawdat2, Osama Almadhoun3, Mamatha Pasnoor2, April L McVey2, Ahmad Abuzinadah2, Laura Herbelin2, Richard J Barohn2, Mazen M Dimachkie2.   

Abstract

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Autosomal recessive; Enzyme replacement therapy; Hypotonia; Lysosomal glycogen storage disease; Metabolic myopathy; Newborn screening

Mesh：

Year:  2014        PMID： 25037089      PMCID： PMC4311397          DOI： 10.1016/j.ncl.2014.04.010

Source DB:  PubMed          Journal:  Neurol Clin        ISSN： 0733-8619            Impact factor:   3.806


  126 in total

Review 1.  Autophagy and human disease.

Authors:  Ju Huang; Daniel J Klionsky
Journal:  Cell Cycle       Date:  2007-05-25       Impact factor: 4.534

2.  Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.

Authors:  B J Ebbink; F K Aarsen; C M van Gelder; J M P van den Hout; N Weisglas-Kuperus; J Jaeken; M H Lequin; W F M Arts; A T van der Ploeg
Journal:  Neurology       Date:  2012-04-25       Impact factor: 9.910

3.  Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.

Authors:  Kanako Sugawara; Seiji Saito; Masakazu Sekijima; Kazuki Ohno; Youichi Tajima; Marian A Kroos; Arnold J J Reuser; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2009-04-03       Impact factor: 3.172

4.  Newborn screening for lysosomal storage diseases: an ethical and policy analysis.

Authors:  Lainie Friedman Ross
Journal:  J Inherit Metab Dis       Date:  2011-12-22       Impact factor: 4.982

5.  Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.

Authors:  Thomas Hundsberger; Marianne Rohrbach; Lukas Kern; Kai M Rösler
Journal:  J Neurol       Date:  2013-06-08       Impact factor: 4.849

6.  Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Authors:  Alfredo Uribe; Roberto Giugliani
Journal:  JIMD Rep       Date:  2013-04-23

7.  p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

Authors:  Marian A Kroos; Reinier A Mullaart; Laura Van Vliet; Robert J Pomponio; Hernan Amartino; Edwin H Kolodny; Gregory M Pastores; Ron A Wevers; Ans T Van der Ploeg; Dicky J J Halley; Arnold J J Reuser
Journal:  Eur J Hum Genet       Date:  2008-02-27       Impact factor: 4.246

Review 8.  Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.

Authors:  John Vissing; Zoltan Lukacs; Volker Straub
Journal:  JAMA Neurol       Date:  2013-07       Impact factor: 18.302

9.  Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

Authors:  Shu-Chuan Chiang; Wuh-Liang Hwu; Ni-Chung Lee; Li-Wen Hsu; Yin-Hsiu Chien
Journal:  Mol Genet Metab       Date:  2012-04-24       Impact factor: 4.797

10.  Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice.

Authors:  Masaaki Komatsu; Satoshi Waguri; Takashi Ueno; Junichi Iwata; Shigeo Murata; Isei Tanida; Junji Ezaki; Noboru Mizushima; Yoshinori Ohsumi; Yasuo Uchiyama; Eiki Kominami; Keiji Tanaka; Tomoki Chiba
Journal:  J Cell Biol       Date:  2005-05-02       Impact factor: 10.539
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  30 in total

1.  Micropatterned substrates with physiological stiffness promote cell maturation and Pompe disease phenotype in human induced pluripotent stem cell-derived skeletal myocytes.

Authors:  Nunnapas Jiwlawat; Eileen M Lynch; Brett N Napiwocki; Alana Stempien; Randolph S Ashton; Timothy J Kamp; Wendy C Crone; Masatoshi Suzuki
Journal:  Biotechnol Bioeng       Date:  2019-06-20       Impact factor: 4.530

Review 2.  Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Authors:  Antonio Toscano; Carmelo Rodolico; Olimpia Musumeci
Journal:  Ann Transl Med       Date:  2019-07

3.  Glycoprotein Enrichment Analytical Techniques: Advantages and Disadvantages.

Authors:  R Zhu; L Zacharias; K M Wooding; W Peng; Y Mechref
Journal:  Methods Enzymol       Date:  2017-01-16       Impact factor: 1.600

Review 4.  Myositis Mimics.

Authors:  E Harlan Michelle; Andrew L Mammen
Journal:  Curr Rheumatol Rep       Date:  2015-10       Impact factor: 4.592

5.  Metabolic shift from glycogen to trehalose promotes lifespan and healthspan in Caenorhabditis elegans.

Authors:  Yonghak Seo; Samuel Kingsley; Griffin Walker; Michelle A Mondoux; Heidi A Tissenbaum
Journal:  Proc Natl Acad Sci U S A       Date:  2018-03-06       Impact factor: 11.205

6.  Newborn screening for Pompe disease: impact on families.

Authors:  B Pruniski; E Lisi; N Ali
Journal:  J Inherit Metab Dis       Date:  2018-03-28       Impact factor: 4.982

7.  Spinal fusion as a viable treatment option for scoliosis management in Pompe disease: a postoperative 3-year follow-up.

Authors:  Kazuki Kawakami; Noriaki Kawakami; Ayato Nohara; Taichi Tsuji; Tetsuya Ohara
Journal:  Eur Spine J       Date:  2015-09-28       Impact factor: 3.134

8.  Effect of Cadmium Ion on alpha-Glucosidase: An Inhibition Kinetics and Molecular Dynamics Simulation Integration Study.

Authors:  Tao Luo; Jinhyuk Lee; Zhi-Rong Lü; Hang Mu; Li-Mei Yue; Yong-Doo Park; Zhuo-Ming Ye
Journal:  Protein J       Date:  2016-06       Impact factor: 2.371

9.  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

10.  Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Authors:  Aniko Gal; Zoltán Grosz; Beata Borsos; Ildikó Szatmari; Agnes Sebők; Laszló Jávor; Veronika Harmath; Katalin Szakszon; Livia Dezsi; Eniko Balku; Zita Jobbagy; Agnes Herczegfalvi; Zsuzsanna Almássy; Levente Kerényi; Maria Judit Molnar
Journal:  Life (Basel)       Date:  2021-05-31
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