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JIMD Reports|February 23, 2013
Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failureGiuseppina Marra, Paolo Gilles Vercelloni, Alberto Edefonti, et al.JIMD Reports|February 23, 2013
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapyNigel J Manning, Elizabeth K Allen, Richard J Kirk, et al.JIMD Reports|February 23, 2013
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunterM Westhoff, P LitterstJIMD Reports|February 23, 2013
Hyperargininemia: a family with a novel mutation in an unexpected siteY Haimi Cohen, R Bargal, M Zeigler, et al.JIMD Reports|February 23, 2013
A rare galactosemia complication: vitreous hemorrhageSahin Takci, Sibel Kadayifcilar, Turgay Coskun, et al.JIMD Reports|February 23, 2013
Clinical and biochemical profiles of maple syrup urine disease in malaysian childrenZ Md Yunus, Dp Abg Kamaludin, M Mamat, et al.JIMD Reports|February 23, 2013
Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1S Balasubramaniam, Y S Choy, A Talib, et al.JIMD Reports|February 23, 2013
A Novel Mutation in CPT1A Resulting in Hepatic CPT DeficiencyMonique Fontaine, Anne-Frédérique Dessein, Claire Douillard, et al.JIMD Reports|February 23, 2013
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findingsHye-Sook Chang, Takako Shibata, Satoshi Arai, et al.JIMD Reports|February 23, 2013
Cardiac Pathology in Glycogen Storage Disease Type IIIS L Austin, A D Proia, M J Spencer-Manzon, et al.Pageof 127