Showing results (381-390 of 1,270) with videos related to
Sort By:
Pageof 127
JIMD Reports|August 9, 2019
A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from RussiaNikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, et al.JIMD Reports|September 14, 2022
Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physiciansSandra Sirrs, Elisa Fabbro, Annalisa Sechi, et al.JIMD Reports|September 14, 2022
Glutamine energy substrate anaplerosis increases bone density in the Pahenu2 classical PKU mouse in the absence of phenylalanine restrictionSteven F Dobrowolski, Yu Leng Phua, Irina L Tourkova, et al.JIMD Reports|September 14, 2022
Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiencyMarjolaine Champagne, Gabriella A Horvath, Sébastien Perreault, et al.JIMD Reports|September 14, 2022
Autoantibodies in Wilson disease: Impact on clinical courseMagdalena Antczak-Kowalska, Anna Członkowska, Ceren Eyileten, et al.JIMD Reports|September 6, 2021
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in BrazilCharles Marques Lourenço, Janaina Dovidio, Isabela F Lopes, et al.JIMD Reports|September 6, 2021
Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutationsAizeddin A Mhanni, Cheryl Rockman-Greenberg, Lawrence Ryner, et al.JIMD Reports|May 12, 2021
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasiaOlivia Sarah Strandbech, Allan Lund, Elsebet OstergaardJIMD Reports|May 12, 2021
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetusesMorten Alstrup, Ida Vogel, Puk Sandager, et al.JIMD Reports|May 12, 2021
Uptake of moss-derived human recombinant GAA in Gaa -/- miceStefan Hintze, Paulina Dabrowska-Schlepp, Birgit Berg, et al.Pageof 127