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JIMD Reports|September 10, 2019
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study populationChristine Haller, Wenjie Song, Tricia Cimms, et al.
JIMD Reports|September 10, 2019
Clinical and neurophysiological characteristics of heterozygous <i>NPC1</i> carriersAlberto Benussi, Maria S Cotelli, Valentina Cantoni, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.
JIMD Reports|January 4, 2017
Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case ReportEvelyn L Fisher, Rose A Sevcik, MaryAnn Romski
JIMD Reports|December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated PropionylcarnitineGerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
JIMD Reports|May 3, 2014
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, et al.
JIMD Reports|February 25, 2014
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3James J Pitt, Frank Willis, Nicholas Tzanakos, et al.
JIMD Reports|April 11, 2014
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective AssessmentSanne van Dongen, Ruth M Brown, Garry K Brown, et al.
JIMD Reports|April 11, 2014
Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophyClara van Karnebeek, Gabriella Horvath, Tyler Murphy, et al.
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