Literature DB >> 1800646

Late onset globoid cell leukodystrophy.

R P Grewal1, N Petronas, N W Barton.   

Abstract

A 29 year old male with onset of globoid cell leukodystrophy at age 14 is described. This is the first case of enzymatically confirmed globoid cell leukodystrophy with onset of symptoms after the age of ten. This patient is unique because of the late onset and slow progression and extends the clinical spectrum of globoid cell leukodystrophy.

Entities:  

Mesh：

Year:  1991        PMID： 1800646      PMCID： PMC1014629          DOI： 10.1136/jnnp.54.11.1011

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  5 in total

1.  Late onset globoid cell leucodystrophy.

Authors:  L Crome; F Hanefeld; D Patrick; J Wilson
Journal:  Brain       Date:  1973-12       Impact factor: 13.501

2.  Multimodal evoked potential studies in leukodystrophies of children.

Authors:  L J De Meirleir; M J Taylor; W J Logan
Journal:  Can J Neurol Sci       Date:  1988-02       Impact factor: 2.104

3.  Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration.

Authors:  P K Thomas; J P Halpern; R H King; D Patrick
Journal:  Ann Neurol       Date:  1984-11       Impact factor: 10.422

4.  Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

Authors:  M C Loonen; O P Van Diggelen; H C Janse; W J Kleijer; W F Arts
Journal:  Neuropediatrics       Date:  1985-08       Impact factor: 1.947

5.  Krabbe disease: specific MRI and CT findings.

Authors:  T Z Baram; A M Goldman; A K Percy
Journal:  Neurology       Date:  1986-01       Impact factor: 9.910
  5 in total
  3 in total

1.  Late onset globoid cell leukodystrophy.

Authors:  P Verdru
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-10       Impact factor: 10.154

2.  Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

Authors:  R De Gasperi; M A Gama Sosa; E L Sartorato; S Battistini; H MacFarlane; J F Gusella; W Krivit; E H Kolodny
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

3.  Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Authors:  Rabab Debs; Roseline Froissart; Patrick Aubourg; Caroline Papeix; Claire Douillard; Bertrand Degos; Bertrand Fontaine; Bertrand Audoin; Arnaud Lacour; Gérard Said; Marie T Vanier; Frédéric Sedel
Journal:  J Inherit Metab Dis       Date:  2012-11-30       Impact factor: 4.982
  3 in total

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