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JIMD Reports|February 15, 2015
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningYin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, et al.JIMD Reports|February 15, 2015
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsJeannette L Usher, David B Ascher, Douglas E V Pires, et al.JIMD Reports|February 22, 2015
Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasEstefanía Lang, Martin Schäfer, Holger Schwender, et al.JIMD Reports|May 23, 2014
Fabry disease: multidisciplinary evaluation after 10 years of treatment with agalsidase BetaPolitei Juan, Amartino Hernan, Schenone Andrea Beatriz, et al.JIMD Reports|May 23, 2014
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VIITsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, et al.JIMD Reports|March 4, 2015
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic SignaturesStefanie Kung, Mark Walters, Peter Claes, et al.JIMD Reports|November 7, 2022
Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementationKristina P Cusmano-Ozog, Alicia K Renck, Christina G TiseJIMD Reports|November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.JIMD Reports|November 7, 2022
Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic reviewChiel J de Bode, Emma J Dogterom, Antoinette V J Rozeboom, et al.Pageof 127