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JIMD Reports|October 15, 2017
Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild PhenylketonuriaS Doyle, M O'Regan, C Stenson, et al.JIMD Reports|May 18, 2026
Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary InterventionsSarah J Firman, Jennifer Cook, Imogen Hall, et al.JIMD Reports|June 10, 2026
Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical AtrophyLiedewei Van de Vondel, Gyu S Lee, Jonathan De Winter, et al.JIMD Reports|June 8, 2026
Delay in Diagnosis of Classical HomocystinuriaSubadra Wanninayake, Reena Sharma, Diane Green, et al.JIMD Reports|April 7, 2017
Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)Emma Medford, Dougal Julian Hare, Katie Carpenter, et al.JIMD Reports|January 5, 2018
Coping Strategies, Stress, and Support Needs in Caregivers of Children with MucopolysaccharidosisAmy Schadewald, Ericka Kimball, Li OuJIMD Reports|June 30, 2026
Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in ArgentinaMaria Cristina Robin, Consuelo Durand, Guillermo Guelbert, et al.JIMD Reports|June 30, 2026
JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune CrosstalkDan Ross Brooks, Hyun Yong Koh, Taylor Martin Kerrins, et al.JIMD Reports|September 7, 2018
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal HyperammonemiaKatherine Taylor Wild, Rebecca D Ganetzky, Marc Yudkoff, et al.JIMD Reports|August 24, 2026
Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!Khaled Alatibi, Martin J Hug, Sara TucciPageof 128