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Article

Clinical and molecular analysis of a Japanese boy with Morquio B disease.

Clinical genetics - 1 Aug 1995

Ishii N, Oohira T, Oshima A, Sakuraba H, Endo F, Matsuda I, Sukegawa K, Orii T, Suzuki Y

Abstract excerpt

Morquio B disease was found in a 15-year-old Japanese boy who presented with progressive generalized skeletal dysplasia without neurological manifestations. Mild keratan sulfaturia was found, and beta-galactosidase was deficient in fibroblasts. Gene analysis revealed two mutant alleles, 83Tyr-->His (Y83H) and 482Arg-->Cys (R482C). The former expressed a low enzyme activity (2-5% of normal), and the latter...

Topics

Adolescent
Base Sequence
Bone and Bones
Humans
Japan
Male
Molecular Sequence Data
Mucopolysaccharidosis IV
Mutation
Polymerase Chain Reaction
Radiography
beta-Galactosidase

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Identifiers

PMID: 7586649
DOI: 10.1111/j.1399-0004.1995.tb04065.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7586649-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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