Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient-Reference-Cited by-同舟云学术

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

Published:2018-11-12 Issue:3 Volume:85 Page:384-389
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Vuillaumier-Barrot Sandrine,Schiff Manuel,Mattioli Francesca,Schaefer Elise,Dupont Audrey,Dancourt Julia,Dupré Thierry,Couvineau Alain,de Baulny Hélène Ogier,de Lonlay Pascale,Seta Nathalie,Moore Stuart,Chantret Isabelle

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://www.nature.com/articles/s41390-018-0231-5.pdf

Reference29 articles.

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2. Peanne, R. et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur. J. Med. Genet. 30494–9 (2017).

3. Scott, K., Gadomski, T., Kozicz, T. & Morava, E. Congenital disorders of glycosylation: new defects and still counting. J. Inherit. Metab. Dis. 37, 609–617 (2014).

4. Ferreira, C. R. et al. Recognizable phenotypes in CDG. J. Inherit. Metab. Dis. 41, 541–553 (2018).

5. Schiff, M. et al. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. J. Med. Genet. 54, 843–851 (2017).

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