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