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JIMD Reports|February 11, 2017
White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin BrotherTokola Anna, Brandstack Nina, Hakkarainen Antti, et al.JIMD Reports|January 21, 2017
Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?Jan Rasmussen, David M Hougaard, Noreen Sandhu, et al.JIMD Reports|September 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formulaJulia A Sabatino, Danielle Starin, Shamir Tuchman, et al.JIMD Reports|September 10, 2019
Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutationJose I R Ciancio, Mark Furman, Siddharth Banka, et al.JIMD Reports|September 10, 2019
Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patientLars Schlotawa, Thomas Dierks, Sophie Christoph, et al.JIMD Reports|August 9, 2019
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiencyMarit Schwantje, Monique de Sain-van der Velden, Judith Jans, et al.JIMD Reports|August 9, 2019
Functional analysis of GALT variants found in classic galactosemia patients using a novel cell-free translation methodDaffodil M Canson, Catherine Lynn T Silao, Salvador Eugenio C CaoiliJIMD Reports|August 9, 2019
Domino liver transplantation for select metabolic disorders: Expanding the living donor poolNeslihan Celik, James E Squires, Kyle Soltys, et al.JIMD Reports|July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.JIMD Reports|May 14, 2015
Novel Genetic Mutations in the First Swedish Patient with Purine Nucleoside Phosphorylase Deficiency and Clinical Outcome After Hematopoietic Stem Cell Transplantation with HLA-Matched Unrelated DonorNicholas Brodszki, Maria Svensson, André B P van Kuilenburg, et al.Pageof 127