Showing results (841-850 of 1,270) with videos related to
Sort By:
Pageof 127
JIMD Reports|January 24, 2015
Parkinsonism in phenylketonuria: a consequence of dopamine depletion?Marieke Velema, Erik Boot, Marc Engelen, et al.JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.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 TisePageof 127