Search Results - "Leijten, Q H"

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11 by Kramer, J J, Boon, H T M, Leijten, Q H, Ter Laak, Henk, Eshuis, L, Kusters, B, van Doorn, J L M, Kamsteeg, E J, Eymard, B, Doorduin, J, Voermans, N C

“…We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced…”
Get more information

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening by Vermeer, S, Kremer, H P H, Leijten, Q H, Scheffer, H, Matthijs, G, Wevers, R A, Knoers, N A V M, Morava, E, Lefeber, D J

“…Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a…”
Get full text

Cerebellar ataxia and congenital disorder of glycosylation la (CDG-la) with normal routine CDG screening by VERMEER, S, KREMER, H. P. H, LEIJTEN, Q. H, SCHEFFER, H, MATTHIJS, G, WEVERS, R. A, KNOERS, N. A. V. M, MORAVA, E, LEFEBER, D. J

Get full text