Literature DB >> 1499588

Beta-mannosidosis and ethanolaminuria in a female patient.

H Wijburg, J de Jong, R Wevers, J Bakkeren, F Trijbels, R Sengers.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1499588     DOI： 10.1007/bf02072238

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


× No keyword cloud information.
  6 in total

1.  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

2.  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

3.  Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.

Authors:  K W Vietor; B Havsteen; D Harms; H Busse; K Heyne
Journal:  Eur J Pediatr       Date:  1977-08-23       Impact factor: 3.183

4.  Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).

Authors:  W Blom; J C Luteyn; H H Kelholt-Dijkman; J G Huijmans; M C Loonen
Journal:  Clin Chim Acta       Date:  1983-10-31       Impact factor: 3.786

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.  Ethanolaminuria: a non-specific laboratory finding in the seriously ill infant.

Authors:  D E Cole; S Farag; K C Dooley
Journal:  Clin Biochem       Date:  1988-10       Impact factor: 3.281
  6 in total
  8 in total

1.  Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.

Authors:  Maria Veiga-da-Cunha; Farah Hadi; Thomas Balligand; Vincent Stroobant; Emile Van Schaftingen
Journal:  J Biol Chem       Date:  2012-01-12       Impact factor: 5.157

2.  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

3.  NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.

Authors:  Yuki Hitomi; Ken Nakatani; Kaname Kojima; Nao Nishida; Yosuke Kawai; Minae Kawashima; Yoshihiro Aiba; Masao Nagasaki; Minoru Nakamura; Katsushi Tokunaga
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2018-12-04

4.  Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Authors:  Troy C Lund; Weston P Miller; Julie B Eisengart; Katrina Simmons; Laura Pollard; Deborah L Renaud; David A Wenger; Marc C Patterson; Paul J Orchard
Journal:  Mol Genet Genomic Med       Date:  2019-05-21       Impact factor: 2.183

5.  Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.

Authors:  Adela González-Jiménez; Pilar López-Cotarelo; Teresa Agudo-Jiménez; Ignacio Casanova; Carlos López de Silanes; Ángeles Martín-Requero; Fuencisla Matesanz; Elena Urcelay; Laura Espino-Paisán
Journal:  Int J Mol Sci       Date:  2022-07-23       Impact factor: 6.208

6.  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

7.  Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures.

Authors:  Mathew Punnachalil Cherian
Journal:  Ann Saudi Med       Date:  2004 Sep-Oct       Impact factor: 1.526

8.  Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

Authors:  Dana Safka Brozkova; Lukas Varga; Anna Uhrova Meszarosova; Zuzana Slobodova; Martina Skopkova; Andrea Soltysova; Andrej Ficek; Jan Jencik; Jana Lastuvkova; Daniela Gasperikova; Pavel Seeman
Journal:  Orphanet J Rare Dis       Date:  2020-08-26       Impact factor: 4.123
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.