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JIMD Reports|September 9, 2020
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria CentreLakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, et al.
JIMD Reports|June 22, 2026
Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle DisordersYasuaki Yasuda, Yoko Nakajima, Yuta Sudo, et al.
JIMD Reports|July 6, 2026
Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe ThrombocytopeniaEamon P McCarron, Melanie Hill, Adam Lomas, et al.
JIMD Reports|June 29, 2026
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature ReviewShaymaa Shurrab, Amira Mobarak, Gabriella Horvath, et al.
JIMD Reports|June 29, 2026
Cardiac Manifestation in Wilson Disease: Results of a 9-Year Prospective CohortS Quick, M Cybularz-Bednarek, L Wiegand, et al.
JIMD Reports|February 20, 2020
Quantitative amino acid analysis by liquid chromatography-tandem mass spectrometry using low cost derivatization and an automated liquid handlerWilliam S Phipps, Eric Crossley, Richard Boriack, et al.
JIMD Reports|March 14, 2022
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophyFrancyne Kubaski, Zackary M Herbst, Maira Graeff Burin, et al.
JIMD Reports|August 28, 2026
Plasma Lactate Response to a 12-Min Walk Test Is a Poor Diagnostic Biomarker for Mitochondrial MyopathyChristine Lando, Tahmina Khawajazada, Jesper Helbo Storgaard, et al.
JIMD Reports|September 20, 2026
A Variant in Abhydrolase Domain Containing 14A (ABHD14A) and the Suspicion of Aminoacylase 1 (ACY1) DeficiencyLil Klaas, Estrella López-Martín, Beatriz Martinez-Delgado, et al.
JIMD Reports|September 9, 2026
Acute and Chronic Pancreatitis in Mitochondrial Disease: A Systematic ReviewOlivia Hahl, Mika H Martikainen
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