Literature DB >> 20447155

Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.

J M Drijvers, D J Lefeber, S A de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, R A Wevers, E Morava.   

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Year:  2010        PMID： 20447155     DOI： 10.1111/j.1399-0004.2009.01349.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  6 in total

1.  Neurology of inherited glycosylation disorders.

Authors:  Hudson H Freeze; Erik A Eklund; Bobby G Ng; Marc C Patterson
Journal:  Lancet Neurol       Date:  2012-05       Impact factor: 44.182

2.  Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.

Authors:  Jaak Jaeken; Dirk Lefeber; Gert Matthijs
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

3.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Authors:  Asbjørg Stray-Pedersen; Paul H Backe; Hanne S Sorte; Lars Mørkrid; Niti Y Chokshi; Hans Christian Erichsen; Tomasz Gambin; Katja B P Elgstøen; Magnar Bjørås; Marcin W Wlodarski; Marcus Krüger; Shalini N Jhangiani; Donna M Muzny; Ankita Patel; Kimiyo M Raymond; Ghadir S Sasa; Robert A Krance; Caridad A Martinez; Shirley M Abraham; Carsten Speckmann; Stephan Ehl; Patricia Hall; Lisa R Forbes; Else Merckoll; Jostein Westvik; Gen Nishimura; Cecilie F Rustad; Tore G Abrahamsen; Arild Rønnestad; Liv T Osnes; Torstein Egeland; Olaug K Rødningen; Christine R Beck; Eric A Boerwinkle; Richard A Gibbs; James R Lupski; Jordan S Orange; Ekkehart Lausch; I Celine Hanson
Journal:  Am J Hum Genet       Date:  2014-06-12       Impact factor: 11.025

4.  ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Authors:  Eva Morava; Vera Tiemes; Christian Thiel; Nathalie Seta; Pascale de Lonlay; Hans de Klerk; Margot Mulder; Estela Rubio-Gozalbo; Gepke Visser; Peter van Hasselt; Dafne D G Horovitz; Carolina Fischinger Moura de Souza; Ida V D Schwartz; Andrew Green; Mohammed Al-Owain; Graciella Uziel; Sabine Sigaudy; Brigitte Chabrol; Franc-Jan van Spronsen; Martin Steinert; Eleni Komini; Donald Wurm; Andrea Bevot; Addelkarim Ayadi; Karin Huijben; Marli Dercksen; Peter Witters; Jaak Jaeken; Gert Matthijs; Dirk J Lefeber; Ron A Wevers
Journal:  J Inherit Metab Dis       Date:  2016-06-10       Impact factor: 4.982

Review 5.  Congenital disorders of glycosylation: new defects and still counting.

Authors:  Kyle Scott; Therese Gadomski; Tamas Kozicz; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2014-05-15       Impact factor: 4.982

6.  Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.

Authors:  Samira Achouitar; Miski Mohamed; Thatjana Gardeitchik; Saskia B Wortmann; Jolanta Sykut-Cegielska; Regina Ensenauer; Hélène Ogier de Baulny; Katrin Õunap; Diego Martinelli; Maaike de Vries; Robert McFarland; Dorus Kouwenberg; Miranda Theodore; Frits Wijburg; Stephanie Grünewald; Jaak Jaeken; Ron A Wevers; Leo Nijtmans; Joanna Elson; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2011-05-04       Impact factor: 4.982
  6 in total

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