Enzymatic abnormality of the carrier state in metachromatic leukodystrophy.
作者信息
Taniguchi N, Nanba I
出版信息
Clin Chim Acta. 1970 Sep;29(3):375-9. doi: 10.1016/0009-8981(70)90005-7.
PMID:5496557
Abstract
摘要
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Enzymatic abnormality of the carrier state in metachromatic leukodystrophy.
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Heterozygote detection in MLD. allelic mutations at the ARA locus.
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[Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].
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Late infantile metachromatic leucodystrophy (MLD). Clinical and diagnostic evaluation in a typical case.
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