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Case Reports
. 1976 Jan;33(1):11-22.

[Mannosidosis: a simple diagnosis]

[Article in French]
J P Farriaux, G Fontaine
  • PMID: 985028
Case Reports

[Mannosidosis: a simple diagnosis]

[Article in French]
J P Farriaux et al. Arch Fr Pediatr. 1976 Jan.

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.

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