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Journal of Inherited Metabolic Disease|September 16, 2003
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentationA Fiumara, A B P van Kuilenburg, U Caruso, et al.The American Journal of Physiology|November 14, 1998
An electrogenic amino acid transporter in the apical membrane of cultured human bronchial epithelial cellsL J Galietta, L Musante, L Romio, et al.Journal of Endocrinological Investigation|February 14, 2013
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillanceA Cassio, C Corbetta, I Antonozzi, et al.European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.Journal of Inherited Metabolic Disease|October 13, 2001
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemiaS H Mudd, R Cerone, M C Schiaffino, et al.Pageof 4