Literature DB >> 15310318

Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

Keinchi Maruyama1, Tomoko Suzuki, Takenobu Koizumi, Hideo Sugie, Tokiko Fukuda, Masataka Ito, Junko Hirato.   

Abstract

Mesh：

Year:  2004        PMID： 15310318     DOI： 10.1111/j.1442-200x.2004.01916.x

Source DB:  PubMed          Journal:  Pediatr Int        ISSN： 1328-8067            Impact factor:   1.524


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  4 in total

Review 1.  Metabolic myopathies: functional evaluation by different exercise testing approaches.

Authors:  L Volpi; G Ricci; D Orsucci; R Alessi; F Bertolucci; S Piazza; C Simoncini; M Mancuso; G Siciliano
Journal:  Musculoskelet Surg       Date:  2011-03-04

2.  Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.

Authors:  Fanny Mochel; Raphael Schiffmann; Marjan E Steenweg; Hasan O Akman; Mary Wallace; Frédéric Sedel; Pascal Laforêt; Richard Levy; J Michael Powers; Sophie Demeret; Thierry Maisonobe; Roseline Froissart; Bruno Barcelos Da Nobrega; Brent L Fogel; Marvin R Natowicz; Catherine Lubetzki; Alexandra Durr; Alexis Brice; Hanna Rosenmann; Varda Barash; Or Kakhlon; J Moshe Gomori; Marjo S van der Knaap; Alexander Lossos
Journal:  Ann Neurol       Date:  2012-09       Impact factor: 10.422

3.  Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

Authors:  C Lamperti; S Salani; S Lucchiari; A Bordoni; M Ripolone; G Fagiolari; M E Fruguglietti; V Crugnola; C Colombo; A Cappellini; A Prelle; N Bresolin; G P Comi; M Moggio
Journal:  J Inherit Metab Dis       Date:  2009-04-08       Impact factor: 4.982

4.  A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.

Authors:  Bridget T Kiely; Rebecca L Koch; Leticia Flores; Danielle Burner; Samantha Kaplan; Priya S Kishnani
Journal:  Front Genet       Date:  2022-09-13       Impact factor: 4.772
  4 in total

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