Literature DB >> 3762648

Human beta-mannosidase deficiency.

A Cooper, I B Sardharwalla, M M Roberts.   

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Year:  1986        PMID： 3762648

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  26 in total

1.  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

2.  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

Review 3.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

Authors:  P T Clayton; E Thompson
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  Beta-mannosidosis in two brothers with hearing loss.

Authors:  L Dorland; M Duran; F E Hoefnagels; J N Breg; H Fabery de Jonge; K Cransberg; F J van Sprang; O P van Diggelen
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

5.  Partial purification of goat kidney beta-mannosidase.

Authors:  J I Frei; K T Cavanagh; R A Fisher; R P Hausinger; M Dupuis; E J Rathke; M Z Jones
Journal:  Biochem J       Date:  1988-02-01       Impact factor: 3.857

6.  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

7.  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

8.  Complementation studies in human and caprine beta-mannosidosis.

Authors:  P Hu; D A Wenger; O P van Diggelen; W J Kleijer
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

9.  N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Authors:  J N Thompson; M Z Jones; G Dawson; P S Huffman
Journal:  J Inherit Metab Dis       Date:  1992       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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