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JIMD Reports|March 11, 2020
Earwax: A potentially useful medium to identify inborn errors of metabolism?Stefan Krywawych, Maureen Cleary, Mel McSweeney, et al.JIMD Reports|July 7, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, et al.JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.JIMD Reports|April 28, 2016
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase DeficiencyIrene De Biase, Krista S Viau, Aiping Liu, et al.JIMD Reports|February 28, 2016
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS IJ Troko, Y Poonawala, T Geberhiwot, et al.JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.JIMD Reports|July 13, 2022
Natural history of arginase 1 deficiency and the unmet needs of patients: A systematic review of case reportsAseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, et al.JIMD Reports|July 13, 2022
Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantationStefanie Maier, Miroslav Zivicnjak, Lorenz Grigull, et al.JIMD Reports|January 31, 2016
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell TransplantationA S Kunin-Batson, E G Shapiro, K D Rudser, et al.Pageof 127