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Journal of Inherited Metabolic Disease|August 5, 2026
Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT DeficiencySoma Koga, Hajime Takei, Ryutaro Tamura, et al.Journal of Inherited Metabolic Disease|May 30, 2025
A Multiomic Network Approach to Uncover Disease Modifying Mechanisms of Inborn Errors of MetabolismAaron Bender, Pablo Ranea-Robles, Evan G Williams, et al.Journal of Inherited Metabolic Disease|September 8, 2026
Genome Editing for Glycogen Storage DiseasesTroy von Beck, Raymond Wang, Dwight KoeberlJournal of Inherited Metabolic Disease|September 10, 2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized ConditionSilvio Veraldi, Maria Sole Basso, Giovanna Soglia, et al.Journal of Inherited Metabolic Disease|October 13, 2022
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsyLisa M Crowther, Martin Poms, Martina Zandl-Lang, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Correction of sphingomyelinase deficiency in Niemann-Pick type C fibroblasts by removal of lipoprotein fraction from culture mediaG H Thomas, C M Tuck-Muller, C S Miller, et al.Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.Journal of Inherited Metabolic Disease|November 5, 2015
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-upDeniz Güngör, Michelle E Kruijshaar, Iris Plug, et al.Journal of Inherited Metabolic Disease|October 27, 2015
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapyA Broomfield, J Fletcher, J Davison, et al.Journal of Inherited Metabolic Disease|July 26, 2015
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groupsSara D Khangura, Kylie Tingley, Pranesh Chakraborty, et al.Pageof 429