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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 HolcikJIMD Reports|March 6, 2024
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spotsRohit Hirachan, Alistair Horman, Derek Burke, et al.JIMD Reports|May 13, 2024
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospitalGustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, et al.JIMD Reports|November 6, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese womanHiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, et al.JIMD Reports|February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA DeficiencySophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.JIMD Reports|November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteineKatarina Šikić, Tessa M A Peters, Udo Engelke, et al.JIMD Reports|June 27, 2016
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature ReviewKeiko Yamaguchi, Rie Wakimizu, Mitsuru KubotaJIMD Reports|April 21, 2018
Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental DistressOlivia Ambler, Emma Medford, Dougal J HarePageof 127