Showing results (1271-1280 of 4,288) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|May 4, 2005
Molecular mechanisms of dominant expression in porphyriaM N Badminton, G H ElderJournal of Inherited Metabolic Disease|May 4, 2005
Magnetic resonance techniques in the assessment of myelin and myelinationA J BarkovichJournal of Inherited Metabolic Disease|May 4, 2005
Urea cycle defects: management and outcomeM C Nassogne, B Héron, G Touati, et al.Journal of Inherited Metabolic Disease|September 22, 2006
Two familial cases of high blood galactose of unknown aetiologyNicola Brunetti-Pierri, Antone R Opekun, William J CraigenJournal of Inherited Metabolic Disease|September 15, 2006
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutationsMelchior C Nierman, Jorge Peter, Kah-Lin Khoo, et al.Journal of Inherited Metabolic Disease|September 15, 2006
LAT1 gene variants--potential factors influencing the clinical course of phenylketonuriaMiroslaw Bik-Multanowski, Jacek J PietrzykJournal of Inherited Metabolic Disease|May 7, 2005
Hepatocellular carcinoma in glycogen storage disease type Ia: a case seriesL M Franco, V Krishnamurthy, D Bali, et al.Journal of Inherited Metabolic Disease|May 7, 2005
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcomeT Baykal, G Huner Gokcay, Z Ince, et al.Journal of Inherited Metabolic Disease|May 7, 2005
Ornithine transcarbamylase deficiency in pregnancyD R Cordero, J Baker, D Dorinzi, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentationM A Cleary, L Dorland, T J de Koning, et al.Pageof 429