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Journal of Inherited Metabolic Disease|August 21, 2007
High frequency of missense mutations in glycogen storage disease type VIN J Beauchamp, J Taybert, M P Champion, et al.Journal of Inherited Metabolic Disease|August 8, 2007
Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemiaG Gramer, P Burgard, S F Garbade, et al.Journal of Inherited Metabolic Disease|November 27, 2007
Neurological implications of urea cycle disordersA L Gropman, M Summar, J V LeonardJournal of Inherited Metabolic Disease|February 27, 2007
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)T Ohura, K Kobayashi, Y Tazawa, et al.Journal of Inherited Metabolic Disease|February 14, 2007
1H NMR spectra of methylcitric acid in urineH Krawczyk, W GradowskaJournal of Inherited Metabolic Disease|December 23, 2006
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)R Barone, L Sturiale, A Fiumara, et al.Journal of Inherited Metabolic Disease|December 23, 2006
A rationale for cystine supplementation in severe homocystinuriaP J Lee, A BriddonJournal of Inherited Metabolic Disease|December 26, 2006
Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunctionP D'Eufemia, R Finocchiaro, M Celli, et al.Journal of Inherited Metabolic Disease|June 10, 2006
Breast feeding in organic acidaemiasG Gokcay, T Baykal, Y Gokdemir, et al.Journal of Inherited Metabolic Disease|June 10, 2006
B6-responsive disorders: a model of vitamin dependencyPeter T ClaytonPageof 429