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JIMD 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.JIMD Reports|September 13, 2023
Development of tools to facilitate the diagnosis of hereditary fructose intoleranceBianca Panis, Lise E F Janssen, Dirk J Lefeber, et al.JIMD Reports|September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in TaiwanWuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.JIMD Reports|March 6, 2024
Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview studyNahya Awada, Martin HolcikPageof 127