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JIMD Reports|June 22, 2015
The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical AnalysisN B Roberts, S A Curtis, A M Milan, et al.JIMD Reports|June 26, 2015
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 GangliosidosisJoão Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, et al.JIMD Reports|June 26, 2015
PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?D Coman, P Lewindon, P Clayton, et al.JIMD Reports|June 26, 2015
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular FindingsEvangelia Dimitriou, Monica Cozar, Irene Mavridou, et al.JIMD Reports|July 1, 2015
Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPIMari Kärki, Kirsti Näntö-Salonen, Harri Niinikoski, et al.JIMD Reports|July 1, 2015
Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's DiseaseA Lawrence, J Saini, S Sinha, et al.JIMD Reports|July 1, 2015
Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic ArthritisErtugrul Kiykim, Kenan Barut, Mehmet Serif Cansever, et al.JIMD Reports|May 27, 2015
CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) DeficiencyA Torres, S A Newton, B Crompton, et al.JIMD Reports|August 3, 2016
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype ExpansionC Bursle, D Brown, J Cardinal, et al.JIMD Reports|November 7, 2022
Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case seriesMaryam Ziadlou, Anita MacDonaldPageof 127