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Journal of Inherited Metabolic Disease|March 18, 2008
Genetic variants of transferrin in cystic fibrosisE Marklová, Z Albahri, H Vanícek, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemiasP Guldberg, H L Levy, R Koch, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Polyunsaturated fatty acid status in patients with phenylketonuriaP Sanjurjo, L Perteagudo, J Rodríguez Soriano, et al.Journal of Inherited Metabolic Disease|July 24, 2007
Training programmes for developing countriesK K SolankiJournal of Inherited Metabolic Disease|October 9, 2007
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boyC M Mak, T-S Siu, C-W Lam, et al.Journal of Inherited Metabolic Disease|September 22, 2007
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient miceA Latini, K Scussiato, G Leipnitz, et al.Journal of Inherited Metabolic Disease|September 19, 2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfataseA M Montaño, K Sukegawa, Z Kato, et al.Journal of Inherited Metabolic Disease|September 19, 2007
A severity scoring tool to assess the neurological features of neuronopathic Gaucher diseaseE H Davies, R Surtees, C DeVile, et al.Journal of Inherited Metabolic Disease|September 19, 2007
Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek childM Fotoulaki, E H Schuchman, C M Simonaro, et al.Journal of Inherited Metabolic Disease|September 20, 2007
Effect of treatment on biclonal gammopathy associated with Gaucher diseaseO Decaux, A Ruelland, B GrosboisPageof 429