ALG11-CDG

Autor: Jaak Jaeken, Katrien Jansen, Gert Matthijs, L. De Meirleir, Hcmt Prinsen, I. Cuppen, Liesbeth Keldermans, François Foulquier, P.M. van Hasselt, Luc Régal

Publikováno v: Molecular Genetics and Metabolism Reports, 2, 16. Elsevier BV
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 16-19 (2015)
Molecular Genetics and Metabolism Reports

We report on two novel patients with ALG11-CDG. The phenotype was characterized by severe psychomotor disability, progressive microcephaly, sensorineural hearing loss, therapy-resistant epilepsy with burst suppression EEG, cerebral atrophy with, in o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2148c0822f9d761146ea59ea508e06c4
https://doi.org/10.1016/j.ymgmr.2014.11.006

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism.

Publikováno v: Journal of Inherited Metabolic Disease; Aug2011, Vol. 34, p49-286, 238p

Laboratory Guide to the Methods in Biochemical Genetics

Autor: Nenad Blau, Frédéric M. Vaz

Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases. The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not