Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene-Reference-Cited by-同舟云学术

Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene

Published:1997-01 Issue:1 Volume:41 Page:111-114
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Bernardini Gary L.,Herrera Daniel G.,Rn Debbie Carson,DeGasoperi Rita,Sosa Miguel A. Gama,Kolodny Edwin H.,Trifiletti Rosario

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. Galactosyceramide lipidosis: globoid cell leukodystrophy. In: et al, eds. The metabolic basis of inherited disease. New York: McGraw Hill. 1978: 747-769

2. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis.

3. Clinical and biochemical heterogeneity of globoid cell leukodystrophy

4. Globoid cell leukodystrophy: A family with both late-infantile and adult type

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

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review;neurogenetics;2022-01-10

2. Advances in the Diagnosis and Treatment of Krabbe Disease;International Journal of Neonatal Screening;2021-08-18

3. Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesteryl Ester Storage Disease, and Cerebrotendinous Xanthomatosis);Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review;Journal of Inherited Metabolic Disease;2012-11-30

5. Chapter 11 Metabolic Causes of Ataxia;Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias;2007