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Journal of Inherited Metabolic Disease|May 8, 2010
Optic neuropathy in methylmalonic acidemia: the role of neuroprotectionSergio Pinar-Sueiro, Ricardo Martínez-Fernández, Sergio Lage-Medina, et al.Journal of Inherited Metabolic Disease|June 18, 2010
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?Aleksandra Jezela-Stanek, Elżbieta Ciara, Ewa Małunowicz, et al.Journal of Inherited Metabolic Disease|May 7, 2009
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysisJ S Camelo, M I Machado Fernandes, L M Zanini Maciel, et al.Journal of Inherited Metabolic Disease|May 7, 2009
Negative screening tests in classical galactosaemia caused by S135L homozygosityE Crushell, J Chukwu, P Mayne, et al.Journal of Inherited Metabolic Disease|June 3, 2010
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson diseaseKarl Heinz Weiss, Heiko Runz, Barbara Noe, et al.Journal of Inherited Metabolic Disease|September 15, 2006
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and CMarkus Ries, Ellen Schaefer, Till Lührs, et al.Journal of Inherited Metabolic Disease|September 15, 2006
Needs assessment and review of services for people with inherited metabolic disease in the United KingdomHilary Burton, Simon Sanderson, Graham Shortland, et al.Journal of Inherited Metabolic Disease|September 15, 2006
Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutationsM Maradin, K Fumić, H Hansikova, et al.Journal of Inherited Metabolic Disease|April 26, 2007
Regionally selective decreases in cerebral glucose metabolism in a mouse model of phenylketonuriaM Qin, C Beebe SmithJournal of Inherited Metabolic Disease|April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfallsM Adamowicz, R Płoski, D Rokicki, et al.Pageof 429