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JIMD Reports|February 23, 2013
Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutationPratibha Singhi, Linda De Meirleir, Willy Lissens, et al.JIMD Reports|February 23, 2013
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II DeficiencyLance Harrington Rodan, Navin Mishra, Ivanna Yau, et al.JIMD Reports|February 23, 2013
Psychosocial aspects of predictive genetic testing for acute intermittent porphyria in norwegian minorsJanice Andersen, Sverre Sandberg, Maalfrid Raaheim, et al.JIMD Reports|February 23, 2013
Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1Silvia Galletti, Yvonne Nitschke, Anna M Malavolti, et al.JIMD Reports|February 23, 2013
Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disordersSabine Grønborg, Ralph Krätzner, Hendrik Rosewich, et al.JIMD Reports|February 23, 2013
Growth hormone therapy is safe and effective in patients with lysinuric protein intoleranceHarri Niinikoski, Risto Lapatto, Matti Nuutinen, et al.JIMD Reports|February 23, 2013
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?M B Bistué Millón, M A Delgado, N B Azar, et al.JIMD Reports|February 23, 2013
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiencyIsabelle De Bie, Emmanuelle Lemyre, Marie LambertJIMD Reports|February 23, 2013
Utility of rare disease registries in latin americaAna Maria Martins, Marcelo Kerstenezky, Adriana Linares, et al.JIMD Reports|February 23, 2013
Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case ReportJosko Markic, Branka Polic, Radenka Kuzmanic-Samija, et al.Pageof 127