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Journal of Inherited Metabolic Disease|February 17, 2026
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte DataMarit Schwantje, Rose E Maase, Eugenie Dekkers, et al.Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.Journal of Inherited Metabolic Disease|February 17, 2026
Medicine Development and Access for Rare Diseases: Can We Do Better?Carla E M Hollak, Noa Rosenberg, Colinda Post, et al.Journal of Inherited Metabolic Disease|January 26, 2026
Molecular Profile of Mucopolysaccharidosis Type I Patients in BrazilCarlos Robson Costa Cruz, Edina Poletto, Larissa Mota Silva, et al.Journal of Inherited Metabolic Disease|January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American SurveySarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.Journal of Inherited Metabolic Disease|March 25, 2025
Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin MonophosphateGuenter Schwarz, Donald G Basel, Bernd C Schwahn, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed stateT Nagai, T Yokoyama, T Hasegawa, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood plateletsR W Taylor, S Jackson, M Pourfarzam, et al.Journal of Inherited Metabolic Disease|October 2, 2003
Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnanciesS H Mudd, A Tangerman, S P Stabler, et al.Journal of Inherited Metabolic Disease|May 9, 2013
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1Stephanie M Cologna, Celine V M Cluzeau, Nicole M Yanjanin, et al.Pageof 429