Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both pa...

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Bibliografiske detaljer
Main Authors: Groebe, H, Krins, M, Schmidberger, H, von Figura, K, Harzer, K, Kresse, H, Paschke, E, Sewell, A, Ullrich, K
Format: Artigo
Sprog:Inglês
Udgivet: 1980
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1686002/
https://ncbi.nlm.nih.gov/pubmed/6446239
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