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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.JIMD Reports|July 1, 2015
The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C DiseaseMahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, et al.JIMD Reports|May 13, 2020
Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variantsElena A Kamenets, Elena A Gusarova, Natalia V Milovanova, et al.Pageof 127