Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

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Bibliographic Details
Title: Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Authors: Van Scherpenzeel M; 1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands., Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Source: Brain : a journal of neurology [Brain] 2014 Apr; Vol. 137 (Pt 4), pp. 1030-8. Date of Electronic Publication: 2014 Feb 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1460-2156
DOI:10.1093/brain/awu019