Showing results (201-210 of 4,284) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|March 16, 2013
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose studyL Borgwardt, C I Dali, J Fogh, et al.Journal of Inherited Metabolic Disease|February 23, 2013
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDGDorothy A Thompson, Ruth J Lyons, Isabelle Russell-Eggitt, et al.Journal of Inherited Metabolic Disease|January 29, 2013
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann, Leo A J Kluijtmans, Richard J Rodenburg, et al.Journal of Inherited Metabolic Disease|January 29, 2013
Structural white matter changes in adolescents and young adults with maple syrup urine diseaseD Klee, E Thimm, H J Wittsack, et al.Journal of Inherited Metabolic Disease|January 31, 2013
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndromeAgnieszka Karkucinska-Wieckowska, Joanna Trubicka, Bozena Werner, et al.Journal of Inherited Metabolic Disease|January 9, 2013
Metabolite proofreading, a neglected aspect of intermediary metabolismEmile Van Schaftingen, Rim Rzem, Alexandre Marbaix, et al.Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.Journal of Inherited Metabolic Disease|January 25, 2013
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic PorphyriaEliane Sardh, Staffan Wahlin, Mikael Björnstedt, et al.Journal of Inherited Metabolic Disease|February 22, 2012
Clinical variability of isovaleric acidemia in a genetically homogeneous populationM Dercksen, M Duran, L Ijlst, et al.Journal of Inherited Metabolic Disease|February 22, 2012
The cognitive profile of type 1 Gaucher disease patientsMarieke Biegstraaten, Keith A Wesnes, Cécile Luzy, et al.Pageof 429