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.
High‐Protein Diet Ameliorates Cardiomyopathy in a Cardiac‐Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis
AuthorsCaiqi Du; Hao Fu; Tingting Yu; Sisi Cao; Haotian Zhang; Boda Wei; Cai Zhang; Juan Ye; Wenjun Long; Xiaoping Luo; Yan Liang
Affiliations1. 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
Baat ‐Deficient Mice Recapitulate Elevated 7α‐Hydroxy‐3‐Oxo‐4‐Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency
AuthorsSoma Koga; Hajime Takei; Ryutaro Tamura; Yugo Takaki; Hiroyuki Kusuhara; Hiroshi Nittono; Hisamitsu Hayashi
Affiliations1. 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
Behavioral Phenotyping of the Pah enu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives
AuthorsJunfei Cao; Lennart Kruizinga; Iris B. Hovens; Els van der Goot; Robbert Havekes; Eddy A. van der Zee
Affiliations1. Neurobiology Expertise Group, Groningen Institute for Evolutionary Life Sciences (GELIFES) University of Groningen Groningen the Netherlands
Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency
AuthorsIlona Tkachyova; Dahai Wang; Alex Lee; Philip Rößler; Joshua Atienza; Jens Feugmann; Niko Guischard; Anson Hui; Chloe Shi; Andreas Schulze
Affiliations1. Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada; 2. Department of Biochemistry University of Toronto Toronto Ontario Canada; 3. Department of Pediatrics University of Toronto Toronto Ontario Canada
Hepatic Glycogen Storage Disease Type IX : Long‐Term Outcomes in the UK From 89 Patients
AuthorsRebecca K. Halligan; Michael T. Sanders; Arthavan Selvanathan; Nirubhan Veeraghavan; Isaac Bernhardt; Joanna Gribben; Radha Ramachandran; Fiona J. White; Bernd C. Schwahn; Karolina M. Stepien; Preeya Rehsi; Elaine Murphy; Sarah L. Hulley; Helen R. Mundy
Affiliations1. Department of Paediatric Inherited Metabolic Diseases Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust London UK; 2. School for Government, King's College London London UK; 3. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust Health Innovation Manchester Manchester UK; 4. Department of Inherited Metabolic Diseases St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust London UK; 5. Division of Evolution & Genomic Sciences School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester UK; 6. Department of Adult Inherited Metabolic Medicine Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust Salford UK; 7. Department of Paediatric Inherited Metabolic Disease Great Ormond Street Hospital NHS Foundation Trust London UK; 8. Charles Dent Metabolic Unit University College London Hospital NHS Foundation Trust London UK; 9. Department of Paediatric Metabolic Medicine Sheffield Children's Hospital Sheffield UK
Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico‐Pathological Study of 24 Livers
AuthorsLéa Zloty; Mouna Aoun; Carmen Capito; Anaïs Brassier; Guillaume Morcrette; Ugo Cucinotta; Laurène Dehoux; Claire Mayer; Jean‐Paul Duong Van Huynh; Apolline Imbard; Jean‐François Benoist; Christophe Chardot; Manuel Schiff; Pascale de Lonlay; Monique Fabre; Florence Lacaille
Affiliations1. Pediatric Hepatology, Hôpital Universitaire Necker‐Enfants Maladies Filière Filfoie, ERN Rare‐Liver and TransplantChild Paris France; 2. Pediatric Gastroenterology‐Nutrition, Hôpital Universitaire Necker‐Enfants Maladies Paris France; 3. Pathology, Hôpital Universitaire Necker‐Enfants Malades Paris France; 4. Pediatric Surgery, Hôpital Universitaire Necker‐Enfants Malades Paris France; 5. Pediatric Metabolic Diseases, Hôpital Universitaire Necker‐Enfants Malades, Institut Imagine, INSERM UMR 1163; INSERM‐U1151, Institut Necker Enfants‐Malades (INEM) Université Paris Cité, Filière G2m, MetabERN Paris France; 6. Pediatric Nephrology, Hôpital Universitaire Necker‐Enfants Maladies Paris France; 7. Biochemistry, Hôpital Universitaire Necker‐Enfants Malades, Université Paris Saclay Paris France
The Role of Urea Cycle Functional Studies in Preclinical Research
AuthorsNathan Breuillard; Nadia Zürcher; Erica Faccin; Kim L. Stocker; Martin Poms; Johannes Häberle
Affiliations1. Division of Metabolism and Children's Research Centre (CRC) University Children's Hospital Zurich Zurich Switzerland; 2. Division Clinical Chemistry and Biochemistry University Children's Hospital Zurich Zurich Switzerland
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin Treatment
AuthorsNajmesadat Seyedkatouli; Liana N. Semcesen; Lucia Gallucci; Tim Sikora; Jean‐François Conrotte; Mei R. M. Du; Marat Kasakin; Gezime Seferi; Licia Corona; Martin Jakubec; Brunda Nijagal; Sajel Lala; Rebecca D. Ganetzky; Ana Maria Rodriguez Barreto; Marina Szlago; Melanie Wong; Margit Shah; James Nurse; Nicola Foulds; Shankar Sadagopan; Ha Nguyen Thu; Dung Vu Chi; Khanh Nguyen Ngoc; Michelle G. de Silva; Mirana Ramialison; Fernando Rossello; MitoMDT Diagnostic Network for Genomics and Omics; David R. Thorburn; Matthew Lynch; Pauline McGrath; David A. Stroud; John Christodoulou; Carole L. Linster; Nicole J. Van Bergen
Affiliations1. Enzymology and Metabolism Group, Luxembourg Centre for Systems Biomedicine, University of Luxembourg Esch‐sur‐Alzette Luxembourg; 2. Department of Biochemistry and Pharmacology Bio21 Molecular Science and Biotechnology Institute, the University of Melbourne Parkville Victoria Australia; 3. Murdoch Children's Research Institute, Royal Children's Hospital Parkville Victoria Australia; 4. Metabolomics Australia, Bio21 Institute, the University of Melbourne Melbourne Victoria Australia; 5. Division of Clinical Genetics Nickelaus Children's Health System Coral Gables Florida USA; 6. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Pennsylvania USA; 7. Hospital de Niños Dr. Ricardo Gutiérrez City of Buenos Aires Argentina; 8. The Children's Hospital at Westmead Westmead Australia; 9. Faculty of Medicine and Health, University of Sydney Sydney New South Wales Australia; 10. University Hospital Southampton NHS Foundation Trust Southampton UK; 11. Faculty of Medicine, University of Southampton Southampton UK; 12. Center for Endocrinology, Metabolism, Genetics/Genomics and Molecular Therapy, Vietnam National Children's Hospital Vietnam; 13. Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Victoria Australia; 14. Department of Paediatrics Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne Melbourne Victoria Australia; 15. Neurosciences Unit, Queensland Children's Hospital Brisbane Australia
Biallelic Loss‐Of‐Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency
AuthorsPranavi Hegde; Aakanksha Anand; Rita Rani; Namanpreet Kaur; Ami Shah; Shilpa Kulkarni; Janani Supraja Mallavaram; Raghavender Medishetti; Amoolya Kandettu; Huzail Shaikh; Shahyan Siddiqui; Purvi Majethia; Vivekananda Bhat; Periyasamy Radhakrishnan; Aarti Sevilimedu; Sanjiban Chakrabarty; Anju Shukla
Affiliations1. Department of Public Health Genomics Manipal School of Life Sciences, Manipal Academy of Higher Education Manipal India; 2. Department of Medical Genetics Kasturba Medical College, Manipal Academy of Higher Education Manipal India; 3. Center for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli Hyderabad India; 4. Bai Jerbai Wadia Hospital for Children Mumbai India; 5. Department of Radiology NMC Royal Hospital, Dubai Investment Park Dubai UAE; 6. Center for Rare Disease Models, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus Hyderabad India
Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I
AuthorsMartin Donnelley; Ronan Smith; Patricia Cmielewski; Nicole Reyne; Piraveen Pirakalathanan; Nina Eikelis; Kris Nilsen; Jennie Louise; Kate Barratt; Jessica Logan; Ben Ung; David Parsons; Doug Brooks; Sandra Orgeig; Emma Parkinson‐Lawrence
Affiliations1. Robinson Research Institute Adelaide University Adelaide South Australia; 2. School of Medicine, College of Health Adelaide University Adelaide South Australia; 3. Respiratory and Sleep Medicine, Women's and Children's Hospital Adelaide South Australia; 4. 4DMedical Melbourne Australia; 5. Biostatistics Unit South Australian Health and Medical Research Institute Adelaide South Australia; 6. Mechanisms in Cell Biology and Disease Research Concentration, School of Pharmacy and Biomedical Sciences, College of Health Adelaide University Adelaide South Australia; 7. Quality Use of Medicines and Pharmacy Research Centre, School of Pharmacy and Biomedical Sciences College of Health Adelaide University Adelaide South Australia
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