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147.4Average days
130Median days
35Fastest days
375Longest days
1472025 publications

Paper Review Records

All Paper Review Records

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

100 days

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

Authors
John 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 CollisShow moreShow less
Affiliations
1. 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 USAShow moreShow less
Source PDF DOI Publisher page
73 days

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

Authors
Juliana Ribeiro‐Constante; Trine Tangeraas; Angeles García‐CazorlaShow moreShow less
Affiliations
1. 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 NorwayShow moreShow less
Source PDF DOI Publisher page
210 days

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

Authors
Karolina 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 ManoliShow moreShow less
Affiliations
1. 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 AustriaShow moreShow less
Source PDF DOI Publisher page
145 days

High‐Protein Diet Ameliorates Cardiomyopathy in a Cardiac‐Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis

Authors
Caiqi Du; Hao Fu; Tingting Yu; Sisi Cao; Haotian Zhang; Boda Wei; Cai Zhang; Juan Ye; Wenjun Long; Xiaoping Luo; Yan LiangShow moreShow less
Affiliations
1. Department of Pediatrics Tongji Children's Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan China; 2. Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases Wuhan China; 3. Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases Wuhan China; 4. Department of Pediatrics Jiujiang Maternal and Child Health Hospital Jiujiang ChinaShow moreShow less
Source PDF DOI Publisher page
177 days

Baat ‐Deficient Mice Recapitulate Elevated 7α‐Hydroxy‐3‐Oxo‐4‐Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency

Authors
Soma Koga; Hajime Takei; Ryutaro Tamura; Yugo Takaki; Hiroyuki Kusuhara; Hiroshi Nittono; Hisamitsu HayashiShow moreShow less
Affiliations
1. Laboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo Tokyo Japan; 2. Junshin Clinic Bile Acid Institute Tokyo Japan; 3. Department of Pediatric Gastroenterology and Hepatology, Japanese Red Cross Kumamoto Hospital Kumamoto JapanShow moreShow less
Source PDF DOI Publisher page
375 days

Behavioral Phenotyping of the Pah enu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives

Authors
Junfei Cao; Lennart Kruizinga; Iris B. Hovens; Els van der Goot; Robbert Havekes; Eddy A. van der ZeeShow moreShow less
Affiliations
1. Neurobiology Expertise Group, Groningen Institute for Evolutionary Life Sciences (GELIFES) University of Groningen Groningen the NetherlandsShow moreShow less
Source PDF DOI Publisher page

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

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Average review62 days

Median65 days

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