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A CLINICAL AND BIOCHEMICAL STUDY OF THE MUCOPOLYSACCHARIDOSES

Out of five thousand cases of mental retardation investigated over a period often years in NIMHANS, 80 cases were suspected to be cases of mucopolysaccharidoses. Out of these, 58 cases were confirmed as mucopolysaccharidoses after biochemical and radiological investigations. The different types of m...

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Detalles Bibliográficos
Autores principales: Narayanan, H.S., Mohan, K.S., Jayasimha, N., Rao, B.S. Sridhara Rama
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 1987
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3172458/
https://www.ncbi.nlm.nih.gov/pubmed/21927225
Descripción
Sumario:Out of five thousand cases of mental retardation investigated over a period often years in NIMHANS, 80 cases were suspected to be cases of mucopolysaccharidoses. Out of these, 58 cases were confirmed as mucopolysaccharidoses after biochemical and radiological investigations. The different types of mucopolysaccharidoses were 40 cases of Hurler's, 14 of Hunter's and 4 of Morquio's syndrome. The special features of the cases are highlighted and the need for early diagnosis is emphasised.