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JIMD Reports|February 27, 2025
Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic ReviewClara Sherlock, Kim Clarke, Norah JordanJIMD Reports|January 22, 2025
Genotypic Spectrum in a Cohort of Sri Lankan Patients With HomocystinuriaHewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, et al.JIMD Reports|January 21, 2025
A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab EmiratesOmar Jarrah, Mahmood Nouri, Aisha Al ShamsiJIMD Reports|November 15, 2024
Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liverMihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, et al.JIMD Reports|November 8, 2024
Olfactory and gustatory perception in Brazilian PKU patients: A cross-sectional studyTássia Tonon, Chenia Martinez, Tatiele Nalin, et al.JIMD Reports|November 8, 2024
In vivo glycerol metabolism in patients with glycerol kinase deficiencyAnkit Shah, Huiting Xu, Hyok Joon Kwon, et al.JIMD Reports|July 8, 2024
The neuronal ceroid lipofuscinosis type 2 - associated variants: An analysis of alterations in the TPP1 gene and genotype-phenotype correlation in UkraineNataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, et al.JIMD Reports|July 8, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiencyFatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, et al.JIMD Reports|July 8, 2024
Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitisOliver Heath, Brooke Allender, Joel Smith, et al.JIMD Reports|September 13, 2023
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine diseaseTrine Tangeraas, Erle Kristensen, Lars Mørkrid, et al.Pageof 127