Showing results (481-490 of 4,287) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|January 1, 1983
Histidinaemia. Part III: Impact; a prospective studyJ T Coulombe, B L Kammerer, H L Levy, et al.Journal of Inherited Metabolic Disease|January 1, 1984
Tay-Sachs disease heterozygote detection in Brazil: comparison between tears and leukocytes as beta-hexosaminidase A sourceM S Buchalter, C M Wannmacher, M WajnerJournal of Inherited Metabolic Disease|January 1, 1983
Thermal activation of hexosaminidase A in a genetic compound with Tay-Sachs diseaseY Ben-Yoseph, M S Baylerian, T Momoi, et al.Journal of Inherited Metabolic Disease|January 1, 1984
Neutropenia and impaired neutrophil function in glycogenosis type IbM Di Rocco, C Borrone, F Dallegri, et al.Journal of Inherited Metabolic Disease|January 1, 1983
Immunofluorescence staining and immunological studies of arylsulphatase A of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblastsA Tanaka, S Higami, G Isshiki, et al.Journal of Inherited Metabolic Disease|January 1, 1980
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotesA H Fensom, P F Benson, A R Grant, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemiaH Awata, F Endo, A Tanoue, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Molecular genetics of metachromatic leukodystrophyV Gieselmann, A Polten, J Kreysing, et al.Journal of Inherited Metabolic Disease|January 1, 1994
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathyT Kishi, I Kawamura, Y Harada, et al.Journal of Inherited Metabolic Disease|March 14, 2008
N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemiaS Jones, C A B Reed, S Vijay, et al.Pageof 429