Literature DB >> 24569608

Clinical utility gene card for: Phosphomannose isomerase deficiency.

Jaak Jaeken1, Dirk Lefeber2, Gert Matthijs3.   

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Year:  2014        PMID： 24569608      PMCID： PMC4135420          DOI： 10.1038/ejhg.2014.29

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


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  9 in total

1.  Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

Authors:  S Vuillaumier-Barrot; C Le Bizec; P de Lonlay; A Barnier; G Mitchell; V Pelletier; C Prevost; J M Saudubray; G Durand; N Seta
Journal:  J Med Genet       Date:  2002-11       Impact factor: 6.318

2.  Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Authors:  V Westphal; S Kjaergaard; J A Davis; S M Peterson; F Skovby; H H Freeze
Journal:  Mol Genet Metab       Date:  2001-05       Impact factor: 4.797

3.  Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Authors:  J Jaeken; G Matthijs; J M Saudubray; C Dionisi-Vici; E Bertini; P de Lonlay; H Henri; H Carchon; E Schollen; E Van Schaftingen
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 4.  Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Authors:  E Schollen; L Dorland; T J de Koning; O P Van Diggelen; J G Huijmans; T Marquardt; D Babovic-Vuksanovic; M Patterson; F Imtiaz; B Winchester; M Adamowicz; E Pronicka; H Freeze; G Matthijs
Journal:  Hum Mutat       Date:  2000-09       Impact factor: 4.878

5.  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

6.  Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Authors:  R Niehues; M Hasilik; G Alton; C Körner; M Schiebe-Sukumar; H G Koch; K P Zimmer; R Wu; E Harms; K Reiter; K von Figura; H H Freeze; H K Harms; T Marquardt
Journal:  J Clin Invest       Date:  1998-04-01       Impact factor: 14.808

7.  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

Review 8.  Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.

Authors:  Micha A Haeuptle; Thierry Hennet
Journal:  Hum Mutat       Date:  2009-12       Impact factor: 4.878

9.  The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

Authors:  P de Lonlay; N Seta
Journal:  Biochim Biophys Acta       Date:  2008-12-06
  9 in total
  4 in total

Review 1.  Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.

Authors:  D Marques-da-Silva; V Dos Reis Ferreira; M Monticelli; P Janeiro; P A Videira; P Witters; J Jaeken; D Cassiman
Journal:  J Inherit Metab Dis       Date:  2017-01-20       Impact factor: 4.982

Review 2.  Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Authors:  Anna Čechová; Ruqaiah Altassan; Delphine Borgel; Arnaud Bruneel; Joana Correia; Muriel Girard; Annie Harroche; Beata Kiec-Wilk; Klaus Mohnike; Tiffany Pascreau; Łukasz Pawliński; Silvia Radenkovic; Sandrine Vuillaumier-Barrot; Luis Aldamiz-Echevarria; Maria Luz Couce; Esmeralda G Martins; Dulce Quelhas; Eva Morava; Pascale de Lonlay; Peter Witters; Tomáš Honzík
Journal:  J Inherit Metab Dis       Date:  2020-04-21       Impact factor: 4.982

3.  Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review.

Authors:  Rossella Colantuono; Elisa D'Acunto; Daniela Melis; Pietro Vajro; Hudson H Freeze; Claudia Mandato
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-10-01       Impact factor: 3.288

Review 4.  Platelets and Defective N-Glycosylation.

Authors:  Elmina Mammadova-Bach; Jaak Jaeken; Thomas Gudermann; Attila Braun
Journal:  Int J Mol Sci       Date:  2020-08-06       Impact factor: 5.923
  4 in total

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