Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression-Reference-Cited by-同舟云学术

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

Published:2011-05-04 Issue:4 Volume:34 Page:923-927
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Achouitar Samira,Mohamed Miski,Gardeitchik Thatjana,Wortmann Saskia B.,Sykut-Cegielska Jolanta,Ensenauer Regina,de Baulny Hélène Ogier,Õunap Katrin,Martinelli Diego,de Vries Maaike,McFarland Robert,Kouwenberg Dorus,Theodore Miranda,Wijburg Frits,Grünewald Stephanie,Jaeken Jaak,Wevers Ron A.,Nijtmans Leo,Elson Joanna,Morava Eva

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9325-5

Reference16 articles.

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2. Cantagrel V, Lefeber DJ, Ng BG et al (2010) SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 142:203–217

3. Chi C-S, Lee H-F, Tsai C-R et al (2010) Clinical manifestations in children with mitochondrial diseases. Pediatr Neurol 43:183–189

4. Drijvers JM, Lefeber DJ, de Munnik SA et al (2010) Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. Clin Genet 77:507–509

5. Grünewald S (2009) The clinical spectrum of phosphomannomutase 2 deficiency. Biochim Biophys Acta 1792:827–834

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