Showing results (161-170 of 4,283) with videos related to
Sort By:
Pageof 429
Journal of Inherited Metabolic Disease|January 26, 2006
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutationsS Raghavan, B Zeng, P A Torres, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian familiesS Laradi, T Tukel, M Erazo, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patientsM F G Petry, K Nonemacher, J C Sebben, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotypeG de Voer, P van der Bent, A J G Rodrigues, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometryC Schmidt, U Hofmann, D Kohlmüller, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy reportH-Y Lin, S-P Lin, C-K Chuang, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Increased HVA detected on organic acid analysis in a patient with Costello syndromeA Bowron, J G Scott, C Brewer, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literatureM Di Rocco, T Hennet, C E Grubenmann, et al.Journal of Inherited Metabolic Disease|January 26, 2006
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palateO Lohi, A L Kuusela, M ArolaJournal of Inherited Metabolic Disease|January 26, 2006
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel casesM Linnebank, F Lagler, A C Muntau, et al.Pageof 429