Showing results (141-150 of 4,282) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|January 1, 1992
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage diseaseE Paschke, W Gruber, E Ring, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Zellweger syndrome in a preterm, small for gestational age infantJ F Samsom, C Jakobs, J van de Klei-van Moorsel, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Quantification of N-acetyl-L-aspartic acid in urine by isotope dilution gas chromatography-mass spectrometryR I Kelley, J N StamasJournal of Inherited Metabolic Disease|August 15, 2006
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndromeF Furlan, R Santer, E Vismara, et al.Journal of Inherited Metabolic Disease|August 15, 2006
Structural and functional changes in peripheral vasculature of Fabry patientsRiikka J Kalliokoski, Kari K Kalliokoski, Maila Penttinen, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Type I hereditary tyrosinaemia: presentation of 11 casesT Coşkun, I Ozalp, N Koçak, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Clinical and biochemical findings in parents of children with vitamin D-dependent rickets Type III Yokota, E Takeda, M Ito, et al.Journal of Inherited Metabolic Disease|April 8, 2006
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyaseC Mir, E Lopez-Viñas, R Aledo, et al.Journal of Inherited Metabolic Disease|April 8, 2006
Psychological complications of patients with Gaucher diseaseW Packman, T Wilson Crosbie, A Riesner, et al.Journal of Inherited Metabolic Disease|April 8, 2006
Manifestations of Fabry disease in placental tissueA C Vedder, A Strijland, M A vd Bergh Weerman, et al.Pageof 429