Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Clinical Genetics

• Publication date

  2011-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1399-0004.2010.01572.xPMID 21070211
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The Human Gene Mutation Database: 2008 update

  2009cited by this paper
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  2009cited by this paper
• A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

  2007cited by this paper
• Krabbe disease: genetic aspects and progress toward therapy.

  2000cited by this paper
• Prevalence of lysosomal storage disorders.

  1999cited by this paper
• Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

  1997cited by this paper
• Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

  1993cited by this paper
• Globoid cell leukodystrophy

  1991cited by this paper
• Late-onset globoid cell leukodystrophy

  1990cited by this paper
• Krabbe disease: increased incidence in a highly inbred community.

  1985influential reference
• Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease .

  1982cited by this paper

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