What is new in CDG?
Author:
Funder
Fonds Wetenschappelijk Onderzoek
Horizon 2020
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0050-6/fulltext.html
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2. AlSubhi S, AlHashem A, AlAzami A et al (2015) Further delineation of the ALG9-CDG phenotype. JIMD Rep 27:107–112
3. Argov Z, Caraco Y, Lau H et al (2016) Aceneuramic acid extended release administration maintains upper limb muscle strength in a 48-week study of subjects with GNE myopathy: results from a phase 2, randomized, controlled study. J Neuromuscul Dis 3:49–66
4. Barone R, Fiumara A, Jaeken J (2014) Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol 34:357–366
5. Basmanav FB, Oprisoreanu AM, Pasternack SM et al (2014) Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet 94:135–143
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