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Journal of Inherited Metabolic Disease cover

Journal of Inherited Metabolic Disease

IF3.8
Papers275
Citations7904
Journal Papers 255
Publication Date
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
delete2026-10-03
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deleteNandaki Keshavan; Julia Neugebauer; Marcello Bellusci; Enrico Bertini; Garry Brown; Niklas Darin; Suzanne DeBrosse; Lucy Drexler; Stefan Drexler; Gregory M. Enns; Rebecca D. Ganetzky; Kelly Gilbert; Austin Larson; Rebecca Legi; April N. Lehman; Camile Newby; Manuel Schiff; Rachel Skeath; Peter W. Stacpoole; Sarah Thompson; Emma Watt; Saskia B. Wortmann; Jirair K. Bedoyan; Shamima Rahman
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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
delete2026-09-30
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deleteNina N. Stolwijk; Bart M. F. Penninx; Annet M. Bosch; Mirjam Langeveld; Gajja S. Salomons; Carla E. M. Hollak; Essential Nutritional Therapy Products for IMDs Consensus Group
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International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
delete2026-09-25
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deleteSarah C. Grünert; Kaustuv Bhattacharya; Daniela Karall; Mirjam Langeveld; Fran Rohr; Gepke Visser; Jerry Vockley; Aileen Kenneson; Rani H. Singh; Ute Spiekerkoetter; International LC-FAOD Guideline Workgroup
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L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice
delete2026-09-21
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deleteEdiandra Tissot Castro; Ângela Zanatta; Rafael Teixeira Ribeiro; Diorlon Nunes Machado; Andrey Vinicios Soares Carvalho; Ângela Beatris Zemniaçak; Sâmela de Azevedo Cunha; Tailine Quevedo Tavares; Manuela Bianchin Marcuzzo; Larissa Daniele Bobermin; Carlos Alexandre Netto; Alexandre Umpierrez Amaral; Carmen Regla Vargas; Guilhian Leipnitz; Moacir Wajner
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Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects
delete2026-09-11
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deleteBarbara Siri; Diego Martinelli; Rosalba Carrozzo; Sara Boenzi; Sara Cairoli; Cristiano Rizzo; Teresa Giovanniello; Johannes Häberle; Carlo Dionisi-Vici
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Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition
delete2026-09-10
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deleteSilvio Veraldi; Maria Sole Basso; Giovanna Soglia; Riccardo Cirelli; Gionata Spagnoletti; Silvia Maria Bernabei; Alessia Esposito; Cristiano Rizzo; Sara Cairoli; Diego Martinelli; Lidia Monti; Marco Spada; Andrea Pietrobattista; Carlo Dionisi-Vici
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Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa
delete2026-09-06
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deleteJohn J. Mitchell; Jose E. Abdenur; Foekje de Boer; Monica Boyer; Margo Sheck Breilyn; María-Luz Couce; Diva D. De Leon; Terry G. Derks; Areeg El-Gharbawy; Andrea B. Haijer-Schreuder; Karen Loechner; Nicola Longo; Allan M. Lund; Miguel Angel Martinez Olmos; Shawn E. McCandless; Bibiana Mello de Oliveira; Malaya Mount; Nicole Muschol; Kristina Pytlak; Kadakkal Radhakrishnan; Rebecca Riba-Wolman; David F. Rodriguez-Buritica; Alessandro La Rosa; Alessandro Rossi; Heather Saavedra; René Santer; Brian Shayota; G. Peter A. Smit; Carolina F. Moura De Souza; Melanie M. van der Klauw; David A. Weinstein; Joseph I. Wolfsdorf; Anne Blake; Andrew A. Grimm; Deepali Mitragotri; Syeda Rahman; Diane M. Turner-Bowker; Richard Collis
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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study
delete2026-09-06
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deleteKarolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders
delete2026-09-06
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deleteEamon P. McCarron; Nenad Blau; Emily R. Eden; Frances M. Platt; Johannes M. Aerts; Simon A. Jones; Carlos R. Ferreira; Karolina M. Stepien
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Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency
delete2026-09-06
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deleteJuliana Ribeiro-Constante; Trine Tangeraas; Angeles García-Cazorla
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Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures
delete2026-09-05
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deleteMaud Janssens; Sanne J. van der Veen; Laura van Dussen; André B. P. van Kuilenburg; Marion M. M. G. Brands; Mirjam Langeveld
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An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders
delete2026-09-05
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deleteMachteld M. Oud; Elise A. Ferreira; Clara D. M. van Karnebeek; Robin Wijngaard; Nicole I. Wolf; Marc Engelen; Mareen Datema; Sacha Ferdinandusse; André B. P. van Kuilenburg; Laura Steinbusch; Saskia N. van der Crabben; Mirjam Langeveld; the ZOEMBA Study Group
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Patient Perspective—Where Does the Value for Money of a Treatment Really Lie?
delete2026-08-29
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deleteToni A. Mathieson; William R. H. Evans; Justin L. Hopkin; Sandra L. Cowie
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