Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease
- 1 January 1993
- journal article
- research article
- Published by Springer Nature in Molecular and Cellular Biochemistry
- Vol. 119 (1-2) , 179-184
- https://doi.org/10.1007/bf00926869
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- Mutations in the Arylsulfatase A Gene of Japanese Patients with Metachromatic LeukodystrophyDNA and Cell Biology, 1993
- Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypesHuman Mutation, 1993
- Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphismsHuman Genetics, 1992
- Late‐onset metachromatic leukodystrophy: Molecular pathology in two siblingsAnnals of Neurology, 1992
- DNA mutation analysis of Gaucher patientsAmerican Journal of Medical Genetics, 1992
- Molecular Basis of Different Forms of Metachromatic LeukodystrophyNew England Journal of Medicine, 1991
- Structure of the arylsulfatase A geneEuropean Journal of Biochemistry, 1990
- A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's DiseaseNew England Journal of Medicine, 1987
- Evidence for the genetic block in metachromatic leucodystrophy (ML)Biochemical and Biophysical Research Communications, 1965
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965