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Journal of Inherited Metabolic Disease|February 23, 2019
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapyFemke C C Klouwer, Bart G P Koot, Kevin Berendse, et al.Journal of Inherited Metabolic Disease|February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.Journal of Inherited Metabolic Disease|March 6, 2019
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemiaSuhail Khoja, Matthew Nitzahn, Brian Truong, et al.Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.Journal of Inherited Metabolic Disease|February 17, 2021
Inherited disorders of complex lipid metabolism: A clinical reviewChangrui Xiao, Francis Rossignol, Frédéric M Vaz, et al.Journal of Inherited Metabolic Disease|February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionPatrick Forny, Friederike Hörster, Diana Ballhausen, et al.Journal of Inherited Metabolic Disease|March 18, 2017
Inherited disorders of transition metal metabolism: an updatePeter T ClaytonJournal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.Journal of Inherited Metabolic Disease|March 4, 2017
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosisStéphanie Paquay, Agnès Bourillon, Samia Pichard, et al.Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.Pageof 429