Literature DB >> 15057961

Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.

Chih-Ping Chen, Shuan-Pei Lin, Chin-Yuan Tzen, Fuu-Jen Tsai, Wuh-Liang Hwu, Wayseen Wang.   

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Year:  2004        PMID： 15057961     DOI： 10.1002/pd.807

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  4 in total

1.  CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Authors:  Marianne Rohrbach; Andrea Klein; Alice Köhli-Wiesner; Dorothe Veraguth; Ianina Scheer; Christian Balmer; Roger Lauener; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982

2.  Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Authors:  A Broomfield; J Fletcher; P Hensman; R Wright; H Prunty; J Pavaine; S A Jones
Journal:  JIMD Rep       Date:  2017-07-20

Review 3.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

4.  Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease.

Authors:  J Hordeaux; L Dubreil; C Robveille; J Deniaud; Q Pascal; B Dequéant; J Pailloux; L Lagalice; M Ledevin; C Babarit; P Costiou; F Jamme; M Fusellier; Y Mallem; C Ciron; C Huchet; C Caillaud; M-A Colle
Journal:  Acta Neuropathol Commun       Date:  2017-09-06       Impact factor: 7.801
  4 in total

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