Showing results (521-530 of 4,287) with videos related to

Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|June 1, 2006
CCL18: a urinary marker of Gaucher cell burden in Gaucher patientsRolf G Boot, Marri Verhoek, Mirjam Langeveld, et al.
Journal of Inherited Metabolic Disease|June 1, 2006
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old manN R M Buist, B Glenn, O Vugrek, et al.
Journal of Inherited Metabolic Disease|July 10, 2007
Introducing new screens: why are we all doing different things?R J Pollitt
Journal of Inherited Metabolic Disease|July 11, 2007
Natural history of the respiratory involvement in Anderson-Fabry diseaseS Magage, J-C Lubanda, Z Susa, et al.
Journal of Inherited Metabolic Disease|August 23, 2007
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosisNicola Brunetti-Pierri, Asad Mian, Rebecca Luetchke, et al.
Journal of Inherited Metabolic Disease|July 17, 2007
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan diseaseO Y Al-Dirbashi, M S Rashed, K Al-Qahtani, et al.
Journal of Inherited Metabolic Disease|June 27, 2008
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?H Gokmen Ozel, T Kucukkasap, G Koksal, et al.
Journal of Inherited Metabolic Disease|June 20, 2008
Movement disorders and inborn errors of metabolism in adults: a diagnostic approachF Sedel, J-M Saudubray, E Roze, et al.
Journal of Inherited Metabolic Disease|June 20, 2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centresT Zwickler, M Lindner, H I Aydin, et al.
Journal of Inherited Metabolic Disease|January 9, 2007
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levelsA C Vedder, G E Linthorst, M J van Breemen, et al.
Pageof 429