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Journal of Inherited Metabolic Disease|October 27, 2004
Challenges for basic research in glutaryl-CoA dehydrogenase deficiencyS Kölker, K A Strauss, S I Goodman, et al.The Journal of Biological Chemistry|October 23, 1997
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiencyD D Hinson, K L Chambliss, G F Hoffmann, et al.European Journal of Pediatrics|January 1, 1994
Neurological manifestations of organic acid disordersG F Hoffmann, K M Gibson, F K Trefz, et al.European Journal of Clinical Investigation|March 18, 2004
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stressU Spiekerkoetter, C Tokunaga, U Wendel, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduriaG F Hoffmann, S U Brendel, S R Scharfschwerdt, et al.Neuropediatrics|August 30, 2002
Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiencyC Bräutigam, K Hyland, R Wevers, et al.European Child & Adolescent Psychiatry|March 2, 2024
Resilience strengthening in youth with a chronic medical condition: a randomized controlled feasibility trial of a combined app and coaching programAnne Christine Bischops, L Sieper, J Dukart, et al.Der Nervenarzt|September 24, 2002
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]S Bubel, V Peters, C Klein, et al.Neurology|June 30, 2005
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiencyS Külkens, I Harting, S Sauer, et al.Zeitschrift Fur Ernahrungswissenschaft|March 1, 1990
Vitamin E status in Sudanese children with protein-energy malnutritionH M Ahmed, M D Laryea, A O el-Karib, et al.Pageof 28