Literature DB >> 985028

[Mannosidosis: a simple diagnosis].

J P Farriaux, G Fontaine.   

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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Year:  1976        PMID: 985028

Source DB:  PubMed          Journal:  Arch Fr Pediatr        ISSN: 0003-9764


  2 in total

1.  Mannosidosis. Clinical and biochemical study.

Authors:  P J Milla; I E Black; A D Patrick; K Hugh-Jones; V Oberholzer
Journal:  Arch Dis Child       Date:  1977-12       Impact factor: 3.791

2.  Egasyn affects the processing of beta-glucuronidase in mouse liver.

Authors:  K Pfister; N Bosshard; M Zopfi; R Gitzelmann
Journal:  Biochem J       Date:  1988-11-01       Impact factor: 3.857

  2 in total

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