-
1
المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development
المصدر: Nature genetics. Nature Publishing Group
مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish
-
2
المؤلفون: Matthew A. Pimentel, Donna H. Kim, Lorne W. Walker, Michelle B. Noelck, Ludmila Perelygina, Kimberly A. Kripps, Victoria W. Cartwright, Tracy Funk, Sarah Green, Annie Kuo, John Ng, Solveig L. Ophaug, Ross Passo, Travis Redd, Alison Small
المصدر: Pediatric Dermatology.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Dermatology
-
3
المؤلفون: Kimberly A. Kripps, Peter R. Baker, Aaina Kochar, Chelsey F. Stillman, Erica Wymore, Austin Larson, Laurie Bernstein, Michael Woontner, Heather E. Skillman, Casey Burns, Sommer Gaughan, Curtis R. Coughlin, Ellie G. Hendricks, Shawn E. McCandless, Johan L.K. Van Hove, Janet A. Thomas
المصدر: Molecular Genetics and Metabolism. 133:231-241
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Synthetic function, Anabolism, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Nutritional Status, 030105 genetics & heredity, Biochemistry, Enteral administration, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Humans, Decompensation, Child, Intensive care medicine, Molecular Biology, chemistry.chemical_classification, business.industry, Catabolism, Vitamins, Lipids, Glucose, Metabolism, chemistry, Intravenous glucose, Administration, Intravenous, Diet, Ketogenic, business, Essential nutrient, Metabolism, Inborn Errors, 030217 neurology & neurosurgery, Ketogenic diet
-
4
المؤلفون: Marisa W. Friederich, Kurenai Tanji, Lee-Jun C. Wong, Yue Wang, Kimberly A. Kripps, Austin Larson, Ting Chen, Kaz M. Knight, Johan L.K. Van Hove, David M. Mirsky
المصدر: Molecular Genetics and Metabolism. 131:398-404
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mitochondrial DNA, Mitochondrial translation, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biology, Biochemistry, Phenotype, Heteroplasmy, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial respiratory chain, Transfer RNA, medicine, medicine.symptom, Myopathy, Molecular Biology, Gene, 030217 neurology & neurosurgery
-
5
المؤلفون: Michele L. Yang, Maria L. Escolar, Kimberly A. Kripps, Nicholas V. Stence, Elizabeth Troy, Julie Nelson, John A Maloney, Abigail Collins, Daniel Nicklas, Peter R. Baker, Ilana Neuberger, Janell Kierstein
المصدر: Journal of Child Neurology. 35:649-653
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Neuroimaging, Compound heterozygosity, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, medicine.diagnostic_test, business.industry, Leukodystrophy, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Leukodystrophy, Globoid Cell, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Krabbe disease, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery
-
6
المؤلفون: Kimberly A. Kripps, Johan L. K. Van Hove
المصدر: Nutrition Management of Inherited Metabolic Diseases ISBN: 9783030945091
-
7
المؤلفون: Johan L.K. Van Hove, David M. Mirsky, Leighann Sremba, Susan A. Berry, Erica L. Wright, David Watkins, David Ketteridge, Hoanh Nguyen, Shawn E. McCandless, Austin Larson, Kimberly A. Kripps, Peter R. Baker, David S. Rosenblatt
المصدر: Journal of inherited metabolic diseaseREFERENCES. 45(2)
مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Encephalopathy, 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase, chemistry.chemical_compound, Methionine, Genetics, medicine, Humans, Methionine synthase, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Newborn screening, biology, business.industry, medicine.disease, Hypotonia, Vitamin B 12, Early Diagnosis, chemistry, Inborn error of metabolism, biology.protein, Macrocytic anemia, medicine.symptom, business, Metabolism, Inborn Errors
-
8
المؤلفون: Derek Wong, Shawn E. McCandless, Kimberly A. Kripps
المصدر: Liver Disease in Children
مصطلحات موضوعية: Animal science, Chemistry, Urea cycle
-
9
المؤلفون: Kimberly A, Kripps, Marisa W, Friederich, Ting, Chen, Austin A, Larson, David M, Mirsky, Yue, Wang, Kurenai, Tanji, Kaz M, Knight, Lee-Jun, Wong, Johan L K, Van Hove
المصدر: Mol Genet Metab
مصطلحات موضوعية: Electron Transport Complex IV, Phenotype, Muscular Diseases, RNA, Transfer, Mutation, Humans, Tyrosine, Muscle, Skeletal, DNA, Mitochondrial, Oxidative Phosphorylation, Article, Mitochondria
-
10
المؤلفون: Isabella Peixoto de Barcelos, Marni J. Falk, Xiaowu Gai, Rebecca D. Ganetzky, Amy C. Goldstein, Kierstin Keller, Kimberly A. Kripps, Austin Larson, Elizabeth M. McCormick, Colleen Muraresku, Xilma R. Ortiz-Gonzalez, James T. Peterson, Shamima Rahman, Lishuang Shen, David R. Thorburn, Zarazuela Zolkipli-Cunningham
-
11
المؤلفون: William E. Berquist, Kimberly A. Kripps, David Cristin, Michio Hirano, Rowland W Pettit, Michael L. Kueht, Natalia Gomez-Ospina, Sarah H. Elsea, Austin Larson, Brian J. Shayota, Lisa Emrick, Fernando Scaglia, Carlos O. Esquivel, Youmna A. Sherif, Waldo Concepcion, Warapan Nakayuenyongsuk, Elizabeth A. Pomfret, Samuel Gilliland, Ryan Himes, Whitney E. Jackson, Gregory M. Enns, Jacinda B. Sampson, Johan L.K. Van Hove
المصدر: Mol Genet Metab
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Cirrhosis, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Thymidine phosphorylase activity, 030105 genetics & heredity, Liver transplantation, Biochemistry, Gastroenterology, Article, Leukoencephalopathy, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Endocrinology, Mitochondrial Encephalomyopathies, Internal medicine, Exome Sequencing, Genetics, medicine, Humans, Esophageal Motility Disorders, Thymidine phosphorylase, Molecular Biology, Gastrointestinal dysmotility, Thymidine Phosphorylase, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Peripheral Nervous System Diseases, medicine.disease, Magnetic Resonance Imaging, Liver Transplantation, Mitochondria, Peripheral neuropathy, Female, business, 030217 neurology & neurosurgery, Thymidine
-
12
المؤلفون: Fang Xu, Michele Rapp, Kimberly A. Kripps, Christina D. Chambers, Austin Larson, Erin Finn, Naomi Meeks, Natalie J. Nokoff, Wuyan Chen
المصدر: Journal of Investigative Medicine High Impact Case Reports, Vol 9 (2021)
مصطلحات موضوعية: 0301 basic medicine, Medicine (General), medicine.medical_specialty, Epidemiology, Lipoid congenital adrenal hyperplasia, 030209 endocrinology & metabolism, Primary Adrenal Insufficiency, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, R5-920, 0302 clinical medicine, Internal medicine, Scrotum, Pathology, medicine, RB1-214, Sex organ, Safety, Risk, Reliability and Quality, Aldosterone, business.industry, Neonatal hypoglycemia, medicine.disease, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, chemistry, business, Safety Research
-
13
المؤلفون: Kimberly A. Kripps, Jill A. Rosenfeld, Carlos A. Bacino, Lisa Emrick, John W. Belmont, Mahim Jain, Denise L. Perry, Lindsay C. Burrage, LaDonna Immken, Ryan J. Taft, Brendan Lee, Adeline Vanderver, Krista Bluske, Seema R. Lalani, Austin Larson, Nilesh K. Desai, Honey Nagakura
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Male, leukoencephalopathy, 17p13.3 microdeletion, Lissencephaly, 030105 genetics & heredity, Biology, Article, White matter, Leukoencephalopathy, Cohort Studies, 03 medical and health sciences, PAFAH1B1, Adapter molecule crk, chromosomal microarray, Leukoencephalopathies, medicine, Humans, Child, YWHAE, Genetics (clinical), Genetics, Infant, Newborn, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, medicine.anatomical_structure, 14-3-3 Proteins, Child, Preschool, Chromosomal region, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Chromosome Deletion, Haploinsufficiency, white matter, Microtubule-Associated Proteins, Chromosomes, Human, Pair 17
-
14
المؤلفون: Ronald E. Stenkamp, Larissa M. Balogh, Kimberly A. Kripps, Kaspars Tars, Bengt Mannervik, William M. Atkins, Isolde Le Trong
المصدر: Biochemistry. 48:7698-7704
مصطلحات موضوعية: Models, Molecular, Stereochemistry, Protein subunit, Molecular Sequence Data, Mutant, Multifunctional Enzymes, Alkenes, Crystallography, X-Ray, Biochemistry, Catalysis, Article, Substrate Specificity, Catalytic Domain, Humans, Transferase, Binding site, Glutathione Transferase, biology, Chemistry, Protein primary structure, Active site, Protein Structure, Tertiary, Isoenzymes, Mutagenesis, Site-Directed, biology.protein, Protein stabilization
-
15
المؤلفون: Kip P. Conner, William M. Atkins, Dale Whittington, Larissa M. Balogh, Kimberly A. Kripps, Laura M. Shireman
المصدر: Archives of biochemistry and biophysics. 504(2)
مصطلحات موضوعية: Models, Molecular, Protein Conformation, Biophysics, medicine.disease_cause, Crystallography, X-Ray, Biochemistry, Isozyme, Catalysis, Article, 4-Hydroxynonenal, Lipid peroxidation, chemistry.chemical_compound, medicine, Dinitrochlorobenzene, Molecular Biology, Glutathione Transferase, chemistry.chemical_classification, Aldehydes, Chemistry, Glutathione, Isoenzymes, Kinetics, Enzyme, Glutathione S-Transferase pi, DNA, Oxidative stress
-
16
المؤلفون: William M. Atkins, Larissa M. Balogh, Laura M. Shireman, Wei Zhang, Bengt Mannervik, Kimberly A. Kripps, Ronald E. Stenkamp, Isolde Le Trong
المصدر: Biochemistry. 49(7)
مصطلحات موضوعية: Stereochemistry, Protein Conformation, Stereoisomerism, Crystallography, X-Ray, Ligands, Biochemistry, Protein Structure, Secondary, Article, 4-Hydroxynonenal, Substrate Specificity, chemistry.chemical_compound, Catalytic Domain, Transferase, Humans, Chemoselectivity, Glutathione Transferase, Aldehydes, biology, Chemistry, Active site, Glutathione, Recombinant Proteins, Oxidative Stress, biology.protein, Biocatalysis, Stereoselectivity, Enantiomer, Protein Binding