Literature DB >> 23300052

How to describe the clinical spectrum in Pompe disease?

Deniz Güngör, Arnold J J Reuser.   

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Year:  2013        PMID： 23300052     DOI： 10.1002/ajmg.a.35662

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  29 in total

1.  Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Authors:  Paula Hernández-Arévalo; José D Santotoribio; Rocío Delarosa-Rodríguez; Antonio González-Meneses; Salvador García-Morillo; Pilar Jiménez-Arriscado; Juan M Guerrero; Hada C Macher
Journal:  Orphanet J Rare Dis       Date:  2021-05-21       Impact factor: 4.123

2.  The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.

Authors:  Aliya Alansari; Samira Al-Rawahi; Taher Ba-Omar; Mariam Al-Nabhani; Anand Date
Journal:  Sultan Qaboos Univ Med J       Date:  2013-11-08

Review 3.  Glycogen metabolism and glycogen storage disorders.

Authors:  Shibani Kanungo; Kimberly Wells; Taylor Tribett; Areeg El-Gharbawy
Journal:  Ann Transl Med       Date:  2018-12

Review 4.  Molecular genetics of Pompe disease: a comprehensive overview.

Authors:  Paolo Peruzzo; Eleonora Pavan; Andrea Dardis
Journal:  Ann Transl Med       Date:  2019-07

5.  Inspiratory Muscle Training in Late-Onset Pompe Disease: The Effects on Pulmonary Function Tests, Quality of Life, and Sleep Quality.

Authors:  Goksen Kuran Aslan; Burcu Ersoz Huseyinsinoglu; Piraye Oflazer; Nilgun Gurses; Esen Kiyan
Journal:  Lung       Date:  2016-04-22       Impact factor: 2.584

6.  Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Authors:  Claudio Semplicini; Pascaline Letard; Marie De Antonio; Nadjib Taouagh; Barbara Perniconi; Françoise Bouhour; Andoni Echaniz-Laguna; David Orlikowski; Sabrina Sacconi; Emmanuelle Salort-Campana; Guilhem Solé; Fabien Zagnoli; Dalil Hamroun; Roseline Froissart; Catherine Caillaud; Pascal Laforêt
Journal:  J Inherit Metab Dis       Date:  2018-08-28       Impact factor: 4.982

7.  Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

Authors:  Dong-Hwan Lee; Wen-Juan Qiu; Jeongho Lee; Yin-Hsiu Chien; Wuh-Liang Hwu
Journal:  JIMD Rep       Date:  2014-09-12

8.  Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

Authors:  Carin M van Gelder; Marianne Hoogeveen-Westerveld; Marian A Kroos; Iris Plug; Ans T van der Ploeg; Arnold J J Reuser
Journal:  J Inherit Metab Dis       Date:  2014-04-09       Impact factor: 4.982

Review 9.  Pompe disease: from pathophysiology to therapy and back again.

Authors:  Jeong-A Lim; Lishu Li; Nina Raben
Journal:  Front Aging Neurosci       Date:  2014-07-23       Impact factor: 5.750

10.  Phenotypical variation within 22 families with Pompe disease.

Authors:  Stephan C A Wens; Carin M van Gelder; Michelle E Kruijshaar; Juna M de Vries; Nadine A M E van der Beek; Arnold J J Reuser; Pieter A van Doorn; Ans T van der Ploeg; Esther Brusse
Journal:  Orphanet J Rare Dis       Date:  2013-11-19       Impact factor: 4.123
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