Paper Review Records
全部论文审稿周期
25 篇有效样本 · 按发表日期由新到旧排列
审稿天数=录用日期-收稿日期;保留 PDF/DOI/网页源链接
100
天
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa
作者
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 Collis展开收起
作者单位
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 USA展开收起
73
天
Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency
作者
Juliana Ribeiro‐Constante; Trine Tangeraas; Angeles García‐Cazorla展开收起
作者单位
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 Norway展开收起
210
天
Cobalamin‐Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment‐New Cases and a Literature Study
作者
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 Manoli展开收起
作者单位
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 Austria展开收起
145
天
High‐Protein Diet Ameliorates Cardiomyopathy in a Cardiac‐Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis
作者
Caiqi Du; Hao Fu; Tingting Yu; Sisi Cao; Haotian Zhang; Boda Wei; Cai Zhang; Juan Ye; Wenjun Long; Xiaoping Luo; Yan Liang展开收起
作者单位
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 China展开收起
177
天
Baat ‐Deficient Mice Recapitulate Elevated 7α‐Hydroxy‐3‐Oxo‐4‐Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency
作者
Soma Koga; Hajime Takei; Ryutaro Tamura; Yugo Takaki; Hiroyuki Kusuhara; Hiroshi Nittono; Hisamitsu Hayashi展开收起
作者单位
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 Japan展开收起
375
天
Behavioral Phenotyping of the Pah enu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives
作者
Junfei Cao; Lennart Kruizinga; Iris B. Hovens; Els van der Goot; Robbert Havekes; Eddy A. van der Zee展开收起
作者单位
1. Neurobiology Expertise Group, Groningen Institute for Evolutionary Life Sciences (GELIFES) University of Groningen Groningen the Netherlands展开收起
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