Literature DB >> 11494962

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.

M G Ausems, K ten Berg, L A Sandkuijl, M A Kroos, A F Bardoel, K N Roumelioti, A J Reuser, R Sinke, C Wijmenga.   

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Year:  2001        PMID： 11494962      PMCID： PMC1734921          DOI： 10.1136/jmg.38.8.527

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


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  3 in total

Review 1.  Molecular genetics of Pompe disease: a comprehensive overview.

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

2.  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

3.  Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Authors:  Monica Y Niño; Stijn L M In't Groen; Douglas O S de Faria; Marianne Hoogeveen-Westerveld; Hannerieke J M P van den Hout; Ans T van der Ploeg; Atze J Bergsma; W W M Pim Pijnappel
Journal:  Hum Mutat       Date:  2021-09-08       Impact factor: 4.700
  3 in total

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