[Locus differentiation of hereditary mucopolysaccharidoses].

Article

[Locus differentiation of hereditary mucopolysaccharidoses].

Voprosy meditsinskoi khimii - 1 Jan 2000

Odinokova O N, Lebedeva T V, Krasnopol'skaia K D, Freĭdin M I

Abstract excerpt

Locus differentiation of hereditary mucopolysaccharidoses (MPS) was carried out using the methods of enzymodiagnosis and metabolic cooperation. MPS loci were differentiated in 66 patients from 58 families, examined in the Centre of Medical Genetics, as well as in 21 patient from 12 families, found in Uzbek and Turkmen populations. The following MPS types were detected: MPS I H, MPS I H/Sh, MPS II, MPS III A and...

Topics

Cells, Cultured
Clinical Enzyme Tests
Diagnosis, Differential
Fibroblasts
Genetic Counseling
Glycosaminoglycans
Humans
Leukocytes
Mucopolysaccharidoses
Mutation
Phenotype

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