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JIMD Reports|November 19, 2016
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual DisabilityAustin Larson, James D Weisfeld-Adams, Tim A Benke, et al.
JIMD Reports|November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 VariantsSarah U Morton, Edward G Neilan, Roy W A Peake, et al.
JIMD Reports|September 13, 2014
LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic PathwayErland Arning, Teodoro Bottiglieri
JIMD Reports|September 13, 2014
Treatment Adherence in Type 1 Hereditary Tyrosinaemia (HT1): A Mixed-Method Investigation into the Beliefs, Attitudes and Behaviour of Adolescent Patients, Their Families and Their Health-Care TeamSumaira Malik, Sinead NiMhurchadha, Christina Jackson, et al.
JIMD Reports|January 9, 2015
Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessmentsVirginia G Wadley, Leslie A McClure, David G Warnock, et al.
JIMD Reports|December 19, 2014
Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Adrian Quartel, Christian J Hendriksz, Rossella Parini, et al.
JIMD Reports|September 1, 2017
Natural History of Aromatic L-Amino Acid Decarboxylase Deficiency in TaiwanWuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, et al.
JIMD Reports|October 15, 2017
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of PlasmapheresisE Rivers, B C Reynolds, S Bunn, et al.
JIMD Reports|September 28, 2015
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)Jerold Jeyaratnam, Nienke M Ter Haar, Monique G M de Sain-van der Velden, et al.
JIMD Reports|August 26, 2015
Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseaseOzlem Goker-Alpan, Michael J Gambello, Gustavo H B Maegawa, et al.
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