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JOURNAL OF INHERITED METABOLIC DISEASE journal cover Medicine
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JOURNAL OF INHERITED METABOLIC DISEASE

Wiley SCIE Non-OA
2026 Emerging Zone 32025 CAS Zone 22025 JCR Q2
161.9Average days
145.5Median days
44Fastest days
375Longest days
1472025 publications

Paper Review Records

All Paper Review Records

20 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.

74 days

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis ( MPS ) Type II : Results of up to 14 Years of Follow‐Up

AuthorsJ. (Julia) Holdorp; M. E. (Michelle) Kruijshaar; A. A. M. (Audrey) Vollebregt; A. B. (Andre) Rietman; M. R. K. (Marianne) Dijkstra; C. (Carina) Klees; M. (Margreet) Wagenmakers; A. H. P. (Annie) Nguyen; E. (Esmee) Oussoren; A. T. (Ans) van der Ploeg; J. M. P. (Hannerieke) van den Hout

Affiliations1. Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam the Netherlands; 2. Department of Paediatrics Erasmus MC University Medical Center Rotterdam the Netherlands; 3. Department of Child and Adolescent Psychiatry and Psychology Erasmus MC University Medical Center Rotterdam the Netherlands; 4. Department of Internal Medicine Erasmus MC University Medical Center Rotterdam the Netherlands; 5. Department of Psychiatry Erasmus MC University Medical Center Rotterdam the Netherlands

Source PDF DOI Publisher page
96 days

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT ‐ ATP6 ‐Related Mitochondrial ATP Synthase Defects

AuthorsBarbara Siri; Diego Martinelli; Rosalba Carrozzo; Sara Boenzi; Sara Cairoli; Cristiano Rizzo; Teresa Giovanniello; Johannes Häberle; Carlo Dionisi‐Vici

Affiliations1. Division of Metabolic Diseases and Hepatology Bambino Gesù Children's Hospital IRCCS Rome Italy; 2. Translational Cytogenomics Research Unit, Laboratory of Medical Genetics Bambino Gesù Children's Hospital, IRCCS Rome Italy; 3. Clinical Pathology Unit AOU Policlinico Umberto I Rome Italy; 4. University Children's Hospital Zurich and Children's Research Centre, University of Zurich Zurich Switzerland

Source PDF DOI Publisher page
146 days

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition

AuthorsSilvio 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

Affiliations1. Division of Metabolic Diseases and Hepatology Bambino Gesù Children's Hospital IRCCS Rome Italy; 2. Radiology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy; 3. Division of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantation Bambino Gesù Children's Hospital IRCCS Rome Italy; 4. Department SITRA Nutritional Rehabilitation Unit Bambino Gesù Children's Hospital IRCCS Rome Italy

Source PDF DOI Publisher page
130 days

Genome Editing for Glycogen Storage Diseases

AuthorsTroy von Beck; Raymond Wang; Dwight Koeberl

Affiliations1. Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA; 2. Department of Pediatrics University of California‐Irvine School of Medicine Irvine California USA; 3. Division of Metabolic Disorders Rady Children's Health Specialists Orange California USA; 4. Department of Molecular Genetics and Microbiology Duke University School of Medicine Durham North Carolina USA

Source PDF DOI Publisher page
81 days

Results From a Phase 2, Open‐Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2 ‐ CDG

AuthorsMercedes Serrano; Florencia Epifani; Rose Marino; Peter McWilliams

Affiliations1. Neuropediatric Department, Hospital Sant Joan de Déu Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain; 2. U‐703 Center for Biomedical Research Network on Rare Diseases (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain; 3. Universitat de Barcelona Barcelona Spain; 4. Glycomine Inc. San Carlos California USA

Source PDF DOI Publisher page
56 days

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities

AuthorsLea Isermann; Aleksandra Trifunovic

Affiliations1. Faculty of Medicine, University Hospital Cologne, Institute for Mitochondrial Diseases in Ageing and Cologne Excellence Cluster on Cellular Stress Responses in Ageing‐Associated Diseases (CECAD), University of Cologne Cologne Germany; 2. Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany

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163 days

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

AuthorsAntje Banning; Lidia Reznikova; Adla Murad; Ritva Tikkanen

Affiliations1. Institute of Biochemistry, Medical Faculty University of Giessen Giessen Germany

Source PDF DOI Publisher page
100 days

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa

AuthorsJohn 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

Affiliations1. Montreal Children's Hospital Montreal Quebec Canada; 2. Rady Children's Health Orange California USA; 3. University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases Groningen the Netherlands; 4. UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders University Medical Center Groningen Groningen the Netherlands; 5. Mount Sinai New York New York USA; 6. Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBERER Santiago de Compostela Spain; 7. Children's Hospital of Philadelphia Philadelphia Pennsylvania USA; 8. Duke University Medical Center Durham North Carolina USA; 9. University of Connecticut Farmington Connecticut USA; 10. University of Utah Salt Lake City Utah USA; 11. Centre for Inherited Metabolic Diseases, Rigshospitalet Copenhagen Denmark; 12. Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBEROBN Santiago de Compostela Spain; 13. Children's Hospital Colorado Aurora Colorado USA; 14. Hospital de Clinicas de Porto Alegre Porto Alegre Brazil; 15. University Medical Center Hamburg‐Eppendorf Hamburg Germany; 16. Cleveland Clinic Childrens Cleveland Ohio USA; 17. Department of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA; 18. Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini Genoa Italy; 19. Department of Translational Medicine University of Naples Federico II Naples Italy; 20. Department of Endocrinology University of Groningen, University Medical Center Groningen Groningen the Netherlands; 21. Boston Children's Hospital Boston Massachusetts USA; 22. Ultragenyx Pharmaceutical Inc. Novato California USA

Source PDF DOI Publisher page
73 days

Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency

AuthorsJuliana Ribeiro‐Constante; Trine Tangeraas; Angeles García‐Cazorla

Affiliations1. Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology Hospital Sant Joan de Déu—IRSJD and CIBERER Barcelona Spain; 2. Medicina i Recerca Translacional, Facultat de Medicina i Ciències de la Salut Universitat de Barcelona Barcelona Spain; 3. European Reference Network for Hereditary Metabolic Diseases (MetabERN); 4. Paediatric and Adolescent Medicine Oslo University Hospital Oslo Norway

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210 days

Cobalamin‐Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment‐New Cases and a Literature Study

AuthorsKarolina 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

Affiliations1. Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust Salford UK; 2. Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child Warsaw Poland; 3. National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA; 4. Centre de référence maladies héréditaires du métabolisme, Hôpital Timone Enfants, APHM Marseille France; 5. Neurometabolic Unit Children's Institute São Paulo Brazil; 6. Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA; 7. Reference Center for Inborn Error of Metabolism, Hôpital Necker‐Enfants Malades, APHP and Université Paris Cité Paris France; 8. Wake Forest University School of Medicine, Atrium Health Pediatric Genetics Charlotte North Carolina USA; 9. Division of Medical Genetics and Metabolism Massachusetts General Hospital for Children Boston Massachusetts USA; 10. Department of Pediatrics Harvard Medical School Boston Massachusetts USA; 11. Department of Biochemistry Hôpital Necker‐Enfants Malades, APHP Paris France; 12. Paris‐Saclay University, CEA, Département Médicaments et Technologies pour La Santé (DMTS) Gif‐sur‐Yvette France; 13. Department of Internal Medicine Radboud University Medical Center Nijmegen the Netherlands; 14. Department of Pediatrics and Inherited Metabolic Disorders Charles University‐First Faculty of Medicine and General University Hospital Prague Czech Republic; 15. National Institute of Mental Health, National Institutes of Health Bethesda Maryland USA; 16. Medical Genetics Service/Reference Center for Rare Disorders ‐Hospital Infantil Joana de Gusmão Florianopolis Brazil; 17. Reference Center for Adult Neurometabolic Diseases, Assistance Publique Hôpitaux de Paris; Sorbonne University, La Pitié‐Salpêtrière University Hospital Paris France; 18. Inserm UMRS_1163, Institut Imagine Paris France; 19. Hospital de Clínicas de Porto Alegre and Department of Genetics Universidade Federal do Rio Grande do Sul Porto Alegre Brazil; 20. National Eye Institute, National Institutes of Health Bethesda Maryland USA; 21. Division of Metabolism and Children's Research Center University Children's Hospital Zürich Switzerland; 22. Department of Paediatrics LKH Bregenz Bregenz Austria; 23. Competence Area Healthcare and Nursing Vorarlberg University of Applied Sciences Dornbirn Austria

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I work in environmental engineering and need an SCI paper published within three months. I have no grant funding or prominent co-author. Which journals could I target?

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Machine Learning and Life-Cycle Assessment for Predicting and Optimizing Carbon Emissions in Urban Wastewater Treatment

SampleLatest 5 valid paper samples from 2026

Average review96.4 days

Median77 days

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