Literature DB >> 9950376

Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations.

R Hirschhorn, M L Huie.   

Abstract

Mesh：

Year:  1999        PMID： 9950376      PMCID： PMC1762954     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  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

Review 2.  Pompe Disease: From Basic Science to Therapy.

Authors:  Lara Kohler; Rosa Puertollano; Nina Raben
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

3.  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

Review 4.  The respiratory neuromuscular system in Pompe disease.

Authors:  David D Fuller; Mai K ElMallah; Barbara K Smith; Manuela Corti; Lee Ann Lawson; Darin J Falk; Barry J Byrne
Journal:  Respir Physiol Neurobiol       Date:  2013-06-21       Impact factor: 1.931

Review 5.  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

6.  Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

Authors:  Maryann L Huie; Kwame Anyane-Yeboa; Edwin Guzman; Rochelle Hirschhorn
Journal:  Am J Hum Genet       Date:  2002-02-19       Impact factor: 11.025

7.  A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Authors:  Andreas Herzog; Ralf Hartung; Arnold J J Reuser; Pia Hermanns; Heiko Runz; Nesrin Karabul; Seyfullah Gökce; Joachim Pohlenz; Christoph Kampmann; Christina Lampe; Michael Beck; Eugen Mengel
Journal:  Orphanet J Rare Dis       Date:  2012-06-07       Impact factor: 4.123

8.  Pompe disease diagnosis and management guideline.

Authors:  Priya S Kishnani; Robert D Steiner; Deeksha Bali; Kenneth Berger; Barry J Byrne; Laura E Case; Laura Case; John F Crowley; Steven Downs; R Rodney Howell; Richard M Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S Millington; Marc Nicolino; Gwen O'Grady; Marc C Patterson; David M Rapoport; Alfred Slonim; Carolyn T Spencer; Cynthia J Tifft; Michael S Watson
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

9.  A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.

Authors:  Carmen Esmer; Rosario Becerra-Becerra; Claudia Peña-Zepeda; Antonio Bravo-Oro
Journal:  Acta Myol       Date:  2013-10

Review 10.  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
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