Literature DB >> 3141715

Beta-mannosidosis in two brothers with hearing loss.

L Dorland1, M Duran, F E Hoefnagels, J N Breg, H Fabery de Jonge, K Cransberg, F J van Sprang, O P van Diggelen.   

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Year:  1988        PMID： 3141715     DOI： 10.1007/bf01804251

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  The mucopolysaccharide of normal human urine.

Authors:  N DI FERRANTE; C RICH
Journal:  Clin Chim Acta       Date:  1956 Nov-Dec       Impact factor: 3.786

2.  Human beta-mannosidase deficiency.

Authors:  D A Wenger; E Sujansky; P V Fennessey; J N Thompson
Journal:  N Engl J Med       Date:  1986-11-06       Impact factor: 91.245

3.  Human beta-mannosidase deficiency.

Authors:  A Cooper; I B Sardharwalla; M M Roberts
Journal:  N Engl J Med       Date:  1986-11-06       Impact factor: 91.245

4.  Characterization by gas-liquid chromatography-mass spectrometry and proton-magnetic-resonance spectroscopy of pertrimethylsilyl methyl glycosides obtained in the methanolysis of glycoproteins and glycopeptides.

Authors:  J P Kamerling; G J Gerwig; J F Vliegenthart; J R Clamp
Journal:  Biochem J       Date:  1975-12       Impact factor: 3.857

5.  beta-Mannosidase in human leukocytes and fibroblasts.

Authors:  R S Panday; O P van Diggelen; W J Kleijer; M F Niermeijer
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after N-cetylpyridiniumchloride (CPC) precipitation: a method suitable for the routine laboratory.

Authors:  N G Abeling; S K Wadman; A H Van Gennip
Journal:  Clin Chim Acta       Date:  1974-11-08       Impact factor: 3.786

7.  1,6-Anhydro-beta-D-glucopyranose (beta-glucosan), a constituent of human urine.

Authors:  L Dorland; S K Wadman; H Fabery de Jonge; D Ketting
Journal:  Clin Chim Acta       Date:  1986-08-30       Impact factor: 3.786

8.  Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.

Authors:  M Z Jones; G Dawson
Journal:  J Biol Chem       Date:  1981-05-25       Impact factor: 5.157
  8 in total
  23 in total

1.  Beta-mannosidosis and ethanolaminuria in a female patient.

Authors:  H Wijburg; J de Jong; R Wevers; J Bakkeren; F Trijbels; R Sengers
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

2.  Novel storage products in human beta-mannosidosis.

Authors:  C H Hokke; M Duran; L Dorland; J van Pelt; F J van Sprang
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

Authors:  W J Kleijer; P Hu; R Thoomes; M Boer; J G Huijmans; W Blom; O P Van Diggelen; E Seemanova; M Macek
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Improved selectivity of urinary oligosaccharide screening using two one-dimensional TLC systems.

Authors:  N G Abeling; H Rusch; A H van Gennip
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

5.  Oligosaccharides accumulated in the bovine beta-mannosidosis kidney.

Authors:  M Z Jones; E J Rathke; D A Gage; C E Costello; K Murakami; M Ohta; F Matsuura
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  Animal model of human disease. Bovine beta-mannosidosis.

Authors:  M Z Jones; B Abbitt
Journal:  Am J Pathol       Date:  1993-03       Impact factor: 4.307

Review 7.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

8.  A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus.

Authors:  A Broomfield; R Gunny; I Ali; A Vellodi; P Prabhakar
Journal:  JIMD Rep       Date:  2013-04-16

9.  beta-mannosidase deficiency in a female infant with epileptic encephalopathy.

Authors:  A Cooper; J E Wraith; W J Savage; M Thornley; M J Noronha
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

10.  A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

Authors:  Frédérique Sabourdy; Pierre Labauge; Hilde Monica Frostad Riise Stensland; Michèle Nieto; Violeta Latorre Garcés; Dimitri Renard; Giovanni Castelnovo; Nicolas de Champfleur; Thierry Levade
Journal:  BMC Med Genet       Date:  2009-09-03       Impact factor: 2.103
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