| Literature DB >> 985028 |
Abstract
Mannosidosis is a new and rare disorder. The following clinical symptoms should evolve its diagnosis: facial dysmorphy with slight mental retardation; bone deformities with abnormal L2 vertebra and craniosynostosis; biological abnormalities with vacuolized lymphocytes and absence of urinary mucopolysaccharides. Definite diagnosis relies upon detection of mannose oligosaccharides in the urine and serum deficiency of alpha-D-mannosidase.Entities:
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Year: 1976 PMID: 985028
Source DB: PubMed Journal: Arch Fr Pediatr ISSN: 0003-9764