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JIMD Reports|March 4, 2015
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial MyopathyI M L W Körver-Keularts, M de Visser, H D Bakker, et al.
JIMD Reports|March 13, 2015
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe DiseaseLoren D M Pena, Alan D Proia, Priya S Kishnani
JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.
JIMD Reports|February 26, 2015
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVBTsutomu Shimada, Shunji Tomatsu, Robert W Mason, et al.
JIMD Reports|February 26, 2015
Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at RiskSusan E Waisbren, Jianping He, Robert McCarter
JIMD Reports|February 26, 2015
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from QatarHaitham El Bashir, Lubna Dekair, Yasmeen Mahmoud, et al.
JIMD Reports|April 10, 2015
Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse ModelSandra D K Kingma, Tom Wagemans, Lodewijk IJlst, et al.
JIMD Reports|April 10, 2015
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 MutationRoberta Biancheri, Eleonora Lamantea, Mariasavina Severino, et al.
JIMD Reports|August 7, 2013
Motor development skills of 1- to 4-year-old Iranian children with early treated phenylketonuriaSepideh Nazi, Farzaneh Rohani, Firoozeh Sajedi, et al.
JIMD Reports|November 20, 2019
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathyWalinka van Tol, Angel Ashikov, Eckhard Korsch, et al.
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