43 research outputs found
Late-onset GM2-gangliosidosis in two siblings of Ashkenazi Jewish ancestry results from a mutation in the HEXA gene causing abnormal thermolability of Hexosaminidase A.
No full textMultiple mutations in the galactocerebrosidase gene are associated with a very mild late-onset form of Globoid cell leukodystrophy.
No full textUtility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction
No full textMutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
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Substitution of alanine 531 with a threonine residue at the carboxy terminal end of the -chain is associated with thermolabile Hexosaminidase B in a Jewish family of Oriental ancestry
No full textClinical phenotypes of different **MPZ** <tex>(P_{0})$</tex> mutations may include Charcot-Marie-Tooth type 1B, D\ue9j\ue9rine-Sottas and congenital hypomyelination
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