Literature DB >> 2945113

Human beta-mannosidase deficiency.

D A Wenger, E Sujansky, P V Fennessey, J N Thompson.   

Abstract

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Year:  1986        PMID： 2945113     DOI： 10.1056/NEJM198611063151906

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


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  37 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.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  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 5.  Dysmorphic syndromes with demonstrable biochemical abnormalities.

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

6.  Defining a new immune deficiency syndrome: MAN2B2-CDG.

Authors:  Jan Verheijen; Sunnie Y Wong; Jared H Rowe; Kimiyo Raymond; Jennifer Stoddard; Ottavia M Delmonte; Marita Bosticardo; Kerry Dobbs; Julie Niemela; Enrica Calzoni; Sung-Yun Pai; Uimook Choi; Yasuhiro Yamazaki; Anne Marie Comeau; Erin Janssen; Lauren Henderson; Melissa Hazen; Gerard Berry; Sergio D Rosenzweig; Hasan Hamdan Aldhekri; Miao He; Luigi D Notarangelo; Eva Morava
Journal:  J Allergy Clin Immunol       Date:  2019-11-24       Impact factor: 10.793

7.  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

8.  Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.

Authors:  J F Taylor; B Abbitt; J P Walter; S K Davis; J T Jaques; R F Ochoa
Journal:  Genetics       Date:  1993-11       Impact factor: 4.562

9.  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

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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