(Q28216799)

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Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease

scientific article (publication date: March 2002)

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scholarly article

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Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease (English)

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author name string

Klaus Harzer

1

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Rupert Knoblich

2

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Arndt Rolfs

3

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Peter Bauer

4

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Jürgen Eggers

5

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language of work or name

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publication date

March 2002

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Clinica Chimica Acta

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317

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1-2

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77-84

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Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases

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Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease

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Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination

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Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease

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Protracted course of Krabbe disease in an adult patient bearing a novel mutation

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Krabbe disease: genetic aspects and progress toward therapy

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Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

1 reference

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Hydrolysis of galactosylsphingosine and lactosylsphingosine by beta-galactosidases in human brain and cultured fibroblasts

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Saposins (sap) A and C activate the degradation of galactosylceramide in living cells

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Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status

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Infantile and fetal globoid cell leukodystrophy: analysis of galactosylceramide and galactosylsphingosine

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Simple PCR amplification of the entire glucocerebrosidase gene (GBA) coding region for diagnostic sequence analysis

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Late-onset globoid cell leukodystrophy: unusual ultrastructural pathology and subtotal beta-galactocerebrosidase deficiency

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Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications

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10.1016/S0009-8981(01)00791-4

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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