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Journal of Inherited Metabolic Disease|April 21, 2026
Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type ITeck Boon Tew, Chin-Hsien Lin, Hsueh-Wen Hsueh, et al.Journal of Inherited Metabolic Disease|June 3, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation DisordersGiorgia Olivieri, Andrea Bordugo, Birute Burnyte, et al.Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.Journal of Inherited Metabolic Disease|January 1, 1985
The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorptionD P Muller, J K Lloyd, O H WolffJournal of Inherited Metabolic Disease|November 20, 1998
Variables influencing parental perception of inherited metabolic diseases before and after genetic counsellingR Saleem, R Gofin, Z Ben-Neriah, et al.Journal of Inherited Metabolic Disease|September 2, 2008
Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish familyX Schneider-Yin, R Mamet, E I Minder, et al.Journal of Inherited Metabolic Disease|May 30, 2013
Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficitsEmily R Hautman, Amanda N Kokenge, Kenea C Udobi, et al.Journal of Inherited Metabolic Disease|February 17, 2010
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approachFrancesca Catanzano, Daniela Ombrone, Cristina Di Stefano, et al.Journal of Inherited Metabolic Disease|October 2, 2003
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduriaE Pospísilová, L Mrázová, J Hrdá, et al.Journal of Inherited Metabolic Disease|June 18, 2026
A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick CBenjamín Szenfeld, Macarena Las Heras, Juan Carlos Rubilar, et al.Pageof 429