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JIMD Reports|February 23, 2013
Newborn screening for inborn errors of metabolism in mainland china: 30 years of experienceXiao-Tong Shi, Juan Cai, Yuan-Yu Wang, et al.JIMD Reports|February 23, 2013
The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early InfancyMonique G M de Sain-van der Velden, Piero Rinaldo, Bert Elvers, et al.JIMD Reports|February 23, 2013
Newborn screening for lysosomal storage disorders in hungaryJudit Wittmann, Eszter Karg, Sàndor Turi, et al.JIMD Reports|April 25, 2013
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-MannosidosisElse R Danielsen, Allan M Lund, Carsten ThomsenJIMD Reports|September 5, 2013
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic AbnormalitiesRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.JIMD Reports|June 13, 2013
Chronic kidney disease in an adult with propionic acidemiaH J Vernon, S Bagnasco, A Hamosh, et al.JIMD Reports|July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndromeRenzo Manara, Daniela Concolino, Angelica Rampazzo, et al.JIMD Reports|July 4, 2013
Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotesKlaus Harzer, Stefanie Beck-Wödl, Peter BauerJIMD Reports|April 30, 2013
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New CasesPauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, et al.JIMD Reports|November 6, 2013
A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous FemalesS Dreha-Kulaczewski, V Kalscheuer, A Tzschach, et al.Pageof 127