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A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

✍ Scribed by Mohammed Al-Owain; Sarar Mohamed; Namik Kaya; Ahmad Zagal; Gert Matthijs; Jaak Jaeken


Book ID
119911401
Publisher
BioMed Central
Year
2010
Tongue
English
Weight
540 KB
Volume
5
Category
Article
ISSN
1750-1172

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[JIMD Reports] JIMD Reports - Case and R
✍ Fontaine, Monique πŸ“‚ Article πŸ“… 2012 πŸ› Springer Berlin Heidelberg 🌐 German βš– 540 KB

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.