Showing results (761-770 of 1,263) with videos related to
Sort By:
Pageof 127
JIMD Reports|April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectSaskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.JIMD Reports|May 7, 2014
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosisPaulina Nieves Cobos, Cordula Steglich, René Santer, et al.JIMD Reports|September 27, 2014
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiencyAnnapurna Sudarsanam, Harry Singh, Bridget Wilcken, et al.JIMD Reports|September 27, 2014
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented?Danique van Vliet, Esther van Dam, Margreet van Rijn, et al.JIMD Reports|September 17, 2014
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-upL van der Tol, David Cassiman, Gunnar Houge, et al.JIMD Reports|October 14, 2014
Severe impairment of regulatory T-cells and Th1-lymphocyte polarization in patients with Gaucher diseaseChristos Sotiropoulos, George Theodorou, Constantina Repa, et al.JIMD Reports|August 4, 2014
Revised proposal for the prevention of low bone mass in patients with classic galactosemiaBritt van Erven, Myrna M M Römers, M Estela Rubio-GozalboJIMD Reports|September 3, 2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin TreatmentJessica Nouws, Flemming Wibrand, Mariël van den Brand, et al.JIMD Reports|September 20, 2013
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic VariabilityLubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, et al.JIMD Reports|September 5, 2013
Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe DiseaseJ Baruteau, A Broomfield, V Crook, et al.Pageof 127