Literature DB >> 606170

Mannosidosis. Clinical and biochemical study.

P J Milla, I E Black, A D Patrick, K Hugh-Jones, V Oberholzer.   

Abstract

The clinical, radiological, and biochemical features of 2 male children with mannosidosis are described. Superficially they appeared to suffer from Hurler's syndrome, but the facies, eye signs, radiological and cytological features were atypical. Excess urinary oligosaccharides were found by thin-layer chromatography. The diagnosis was confirmed by determining the acidic alpha-mannosidase activity of leucocytes and cultured skin fibroblasts. Prenatal diagnosis is possible from cultured amniotic cells.

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Year:  1977        PMID： 606170      PMCID： PMC1545017          DOI： 10.1136/adc.52.12.937

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  10 in total

1.  Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors:  R Humbel; M Collart
Journal:  Clin Chim Acta       Date:  1975-04-16       Impact factor: 3.786

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  [Mannosidosis: a simple diagnosis].

Authors:  J P Farriaux; G Fontaine
Journal:  Arch Fr Pediatr       Date:  1976-01

4.  Cataract in mannosidosis.

Authors:  A L Murphree; A L Beaudet; E A Palmer; B L Nichols
Journal:  Birth Defects Orig Artic Ser       Date:  1976

5.  Excretion of mannose-rich complex carbohydrates by a patient with alpha-mannosidase deficiency (mannosidosis).

Authors:  G C Tsay; G Dawson; R Matalon
Journal:  J Pediatr       Date:  1974-06       Impact factor: 4.406

6.  A mannose-containing trisaccharide isolated from urines of three patients with mannosidosis.

Authors:  N E Nordén; A Lundblad; S Svensson; P A Ockerman; S Autio
Journal:  J Biol Chem       Date:  1973-09-10       Impact factor: 5.157

7.  Human mannosidosis--the enzyme defect.

Authors:  M Carroll; N Dance; P K Masson; D Robinson; B G Winchester
Journal:  Biochem Biophys Res Commun       Date:  1972-10-17       Impact factor: 3.575

8.  Mannosidosis: a clinical and histopathologic study.

Authors:  B Kjellman; I Gamstorp; A Brun; P A Ockerman; B Palmgren
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

9.  Mannosidosis: detection of the disease and of heterozygotes using serum and leucocytes.

Authors:  P K Masson; A Lundblad
Journal:  Biochem Biophys Res Commun       Date:  1974-01-23       Impact factor: 3.575

10.  Mannosidosis: deficiency of a specific alpha-mannosidase component in cultured fibroblasts.

Authors:  H A Taylor; G H Thomas; A Aylsworth; R E Stevenson; L W Reynolds
Journal:  Clin Chim Acta       Date:  1975-02-22       Impact factor: 3.786
  10 in total

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