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JIMD Reports|January 8, 2024
Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disordersMaren Thiel, Sven F Garbade, Stefanie Rosenbaum-Fabian, et al.JIMD Reports|April 29, 2026
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C DiseaseArthavan Selvanathan, Ashley Hertzog, Jacqui Russell, et al.JIMD Reports|December 13, 2016
Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in AlkaptonuriaAdam M Taylor, Koen P VercruysseJIMD Reports|April 15, 2018
Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent FeaturesBryony Langford, Megan Besford, Aimée Hall, et al.JIMD Reports|November 20, 2019
Intellectual functioning in alpha-mannosidosisSara S Cathey, Sara M Sarasua, Richard Simensen, et al.JIMD Reports|January 24, 2015
Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric AciduriaPankaj Prasun, Sarah Young, Gajja Salomons, et al.JIMD Reports|July 6, 2026
Are Functional Brain Networks Sensitive to High Phenylalanine in Adults With Phenylketonuria?Vanessa Vallesi, Yosuke Morishima, Laura Winiger, et al.JIMD Reports|March 17, 2015
Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with AlkaptonuriaBirgitta Olsson, Trevor F Cox, Eftychia E Psarelli, et al.JIMD Reports|July 27, 2026
Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic TimingShinjie Choi, Hyoungmin Kim, Tae-Joon Cho, et al.JIMD Reports|July 28, 2026
Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic SurveillanceMarisa Chard, Jasmin Simi Zhang, Lesley TurnerPageof 127