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JIMD Reports|November 9, 2018
Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case SeriesPehuén Fernández, Shunko Oscar Fernández, Jacqueline Griselda Mariela Gonzalez, et al.JIMD Reports|September 10, 2019
A rare late progression form of Sly syndrome mucopolysaccharidosisNathalie Guffon, Roseline Froissart, Alain FouilhouxJIMD 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 NPC1 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 RomskiJIMD 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.Pageof 127