Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference13 articles.
1. A pedigree study of metachromatic leukodystrophy: Biochemical identification of the carrier state
2. Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity
3. Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses
4. Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders
5. Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling
Cited by 6 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. Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature;JIMD Reports;2022-05-04
2. A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy;Journal of the Neurological Sciences;2014-03
3. Genetics of Lysosomal Storage Disorders and Counselling;Lysosomal Storage Disorders;2012-11-15
4. Lysosomal Storage Diseases;Swaiman's Pediatric Neurology;2012
5. Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature;Bone Marrow Transplantation;2010-11-01
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