Literature DB >> 125411

[Mannonidosis. Apropos of 5 cases].

J P Farriaux, I Legouis, R Humbel, J L Dhondt, P Richard, G Strecker, A Fourmaintraux, J Ringel, G Fontaine.   

Abstract

Mannosidosis remains an extremely rare entity (9 published cases). Our personal experience, based upon 5 cases, suggests that the diagnosis may be based upon both positive as well as negative clinical and paraclinical data, which differentiate the disorder from other diseases which it resembles. The use of simple methods--thin layer chromatography of oligosaccharides and measurement of serum mannosidase at pH 3.5 and 4.5--render diagnosis easy. It should, however, be mentioned that there exists no valid treatment for this apparently autosomal recessive disorder but that ante-natal detection is theoretically possible.

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Year:  1975        PMID: 125411

Source DB:  PubMed          Journal:  Nouv Presse Med        ISSN: 0301-1518


  4 in total

1.  Mannosidosis: tissue culture studies in relation to prenatal diagnosis.

Authors:  I Maire; M T Zabot; M Mathieu; J Cotte; M Hermier
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  A serological investigation into the acidic alpha-D-mannosidase in normal Angus cattle and in a calf with mannosidosis.

Authors:  N C Phillips; B G Winchester
Journal:  Biochem J       Date:  1977-05-01       Impact factor: 3.857

3.  MR findings in mannosidosis.

Authors:  J L Dietemann; M M Filippi de la Palavesa; C Tranchant; B Kastler
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

4.  Spectrum of mutations in alpha-mannosidosis.

Authors:  T Berg; H M Riise; G M Hansen; D Malm; L Tranebjaerg; O K Tollersrud; O Nilssen
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

  4 in total

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