Showing results (731-740 of 1,270) with videos related to
Sort By:
Pageof 127
JIMD Reports|February 18, 2014
Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhoodAnne Roubergue, Bertrand Philibert, Agnès Gautier, et al.JIMD Reports|February 19, 2017
Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1Charles Shyng, Shannon L Macauley, Joshua T Dearborn, et al.JIMD Reports|February 19, 2017
Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase DeficiencyS S Johansen, X Wang, D Sejer Pedersen, et al.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 CaoiliPageof 127