Literature DB >> 26577042

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk J Lefeber2, Gert Matthijs3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 26577042      PMCID： PMC5070899          DOI： 10.1038/ejhg.2015.248

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  6 in total

1.  Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Authors:  Monique Van Scherpenzeel; Sharita Timal; Daisy Rymen; Alexander Hoischen; Manfred Wuhrer; Agnes Hipgrave-Ederveen; Stephanie Grunewald; Romain Peanne; Ann Saada; Shimon Edvardson; Sabine Grønborg; George Ruijter; Anna Kattentidt-Mouravieva; Jaime Moritz Brum; Mary-Louise Freckmann; Susan Tomkins; Anil Jalan; Dagmar Prochazkova; Nina Ondruskova; Hana Hansikova; Michel A Willemsen; Paul J Hensbergen; Gert Matthijs; Ron A Wevers; Joris A Veltman; Eva Morava; Dirk J Lefeber
Journal:  Brain       Date:  2014-02-24       Impact factor: 13.501

2.  Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Authors:  Muhammad Arshad Rafiq; Andreas W Kuss; Lucia Puettmann; Abdul Noor; Annapoorani Ramiah; Ghazanfar Ali; Hao Hu; Nadir Ali Kerio; Yong Xiang; Masoud Garshasbi; Muzammil Ahmad Khan; Gisele E Ishak; Rosanna Weksberg; Reinhard Ullmann; Andreas Tzschach; Kimia Kahrizi; Khalid Mahmood; Farooq Naeem; Muhammad Ayub; Kelley W Moremen; John B Vincent; Hans Hilger Ropers; Muhammad Ansar; Hossein Najmabadi
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

3.  Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Authors:  J Jaeken; M Pirard; M Adamowicz; E Pronicka; E van Schaftingen
Journal:  Pediatr Res       Date:  1996-11       Impact factor: 3.756

4.  Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Authors:  Luisa Sturiale; Rita Barone; Agata Fiumara; Marta Perez; Marco Zaffanello; Giovanni Sorge; Lorenzo Pavone; Silvia Tortorelli; John F O'Brien; Jaak Jaeken; Domenico Garozzo
Journal:  Glycobiology       Date:  2005-07-21       Impact factor: 4.313

5.  How to find and diagnose a CDG due to defective N-glycosylation.

Authors:  Dirk J Lefeber; Eva Morava; Jaak Jaeken
Journal:  J Inherit Metab Dis       Date:  2011-07-08       Impact factor: 4.982

6.  MAN1B1 deficiency: an unexpected CDG-II.

Authors:  Daisy Rymen; Romain Peanne; María B Millón; Valérie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins; Marie-Cécile Nassogne; Miguel Gonçalves-Rocha; Haluk Topaloglu; Jaak Jaeken; François Foulquier; Gert Matthijs
Journal:  PLoS Genet       Date:  2013-12-12       Impact factor: 5.917
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.