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Journal of Inherited Metabolic Disease|January 1, 1980
Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's diseaseJ Camakaris, L Ackland, D M DanksJournal of Inherited Metabolic Disease|January 1, 1980
Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartyglucosaminuriaP Aula, K O Raivio, P MauryJournal of Inherited Metabolic Disease|March 26, 2017
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, et al.Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.Journal of Inherited Metabolic Disease|October 22, 2016
Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten diseaseYoung Joon Kwon, Marni J Falk, Michael J BennettJournal of Inherited Metabolic Disease|January 23, 2008
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single familyJ S Chhay, K K Openo, J S Eaton, et al.Journal of Inherited Metabolic Disease|January 24, 2008
Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiencyS N van der Crabben, F A Wijburg, M T Ackermans, et al.Journal of Inherited Metabolic Disease|October 10, 2009
Remarkable differences: the course of life of young adults with galactosaemia and PKUA M Bosch, H Maurice-Stam, F A Wijburg, et al.Journal of Inherited Metabolic Disease|January 1, 1990
Restriction fragment length polymorphisms among Japanese detected with a dihydropteridine reductase cDNA gene probeK Hayasaka, K Narisawa, T Ohura, et al.Pageof 429