المؤلفون: Lisa A. Pan, Jane C. Naviaux, Lin Wang, Kefeng Li, Jonathan M. Monk, Sai Sachin Lingampelly, Anna Maria Segreti, Kaitlyn Bloom, Jerry Vockley, Mark A. Tarnopolsky, David N. Finegold, David G. Peters, Robert K. Naviaux

المصدر: Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/68ee96b7a9524fae9d5b610c0a3b414f

المؤلفون: Meena Sethuraman, Erik Koppes, Kaitlyn Scola, Kaitlyn Bloom, Al-Walid Mohsen, Jerry Vockley

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100873- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000190; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/6f9c4f4f1c77463993f8d73625ad267e

المؤلفون: Kaitlyn Bloom, Anuradha Karunanidhi, Kimimasa Tobita, Charles Hoppel, Edda Thiels, Eloise Peet, Yudong Wang, Shrabani Basu, Jerry Vockley

المصدر: PLoS ONE, Vol 15, Iss 12, p e0242445 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c7bcabf9770341cd9248834258db87ed

المؤلفون: Olivia M. D'Annibale, Erik A. Koppes, Meena Sethuraman, Kaitlyn Bloom, Al‐Walid Mohsen, Jerry Vockley

المصدر: J Inherit Metab Dis

مصطلحات موضوعية: Sulfonamides, Mitochondrial Diseases, Acyl-CoA Dehydrogenase, Long-Chain, Imidazoles, Infant, Newborn, Thiophenes, Lipid Metabolism, Inborn Errors, Article, HEK293 Cells, Neonatal Screening, Muscular Diseases, Genetics, Congenital Bone Marrow Failure Syndromes, Humans, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfe31b890c56e3ce111d7e05640d4bf
https://doi.org/10.1002/jimd.12492

المؤلفون: Anuradha Karunanidhi, Lina Ghaloul-Gonzalez, Dina El Demellawy, Jie Chen, Radhika Muzumdar, Kimi Tobita, Zhenwei Gong, Miguel Reyes-Múgica, Kaitlyn Bloom, Jerry Vockley, Michael J. Bennett, Charles L. Hoppel, Shrabani Basu, Yudong Wang, Emir Tas, Chikara Otsubo, Al-Walid Mohsen

المصدر: Journal of Inherited Metabolic Disease. 41:49-57

مصطلحات موضوعية: Blood Glucose, 0301 basic medicine, medicine.medical_specialty, Mice, 129 Strain, medicine.medical_treatment, Population, Abdominal Fat, Adipose tissue, Biology, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Article, ACADS, 03 medical and health sciences, Insulin resistance, Non-alcoholic Fatty Liver Disease, Internal medicine, Diabetes mellitus, Genetics, medicine, Animals, Insulin, Genetic Predisposition to Disease, Muscle, Skeletal, education, Genetics (clinical), Adiposity, Mice, Knockout, education.field_of_study, Type 2 Diabetes Mellitus, Acyl CoA dehydrogenase, medicine.disease, Mitochondria, Muscle, Mice, Inbred C57BL, Disease Models, Animal, Phenotype, 030104 developmental biology, Endocrinology, Diabetes Mellitus, Type 2, Liver, Obesity, Abdominal, biology.protein, Insulin Resistance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0646ee6c89dff551a886846128aa567
https://doi.org/10.1007/s10545-017-0013-y

المؤلفون: Gail Ditewig Meyers, Kaitlyn Bloom, Michael J. Bennett

المصدر: The Journal of Applied Laboratory Medicine. 1:271-279

مصطلحات موضوعية: chemistry.chemical_classification, 030213 general clinical medicine, Chromatography, Chemistry, Maple syrup urine disease, 010401 analytical chemistry, Phenylalanine, General Medicine, medicine.disease, 01 natural sciences, High-performance liquid chromatography, 0104 chemical sciences, Dried blood spot, Amino acid, 03 medical and health sciences, 0302 clinical medicine, Valine, medicine, Leucine, Amino Acid Measurement

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4221bd11ea0cbad211e38c214940e013
https://doi.org/10.1373/jalm.2016.020289

المؤلفون: Sacha Ferdinandusse, Michael J. Bennett, Jirair K. Bedoyan, Kaitlyn Bloom, Frédéric M. Vaz, Katherine Gowan, Megan K. Dishop, Marisa W. Friederich, Curtis R. Coughlin, Orly Elpeleg, Renata C. Gallagher, Jos P.N. Ruiter, Alberto Burlina, Hans R. Waterham, Johan L.K. Van Hove, Ronald J.A. Wanders, Kathryn C. Chatfield

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1). BioMed Central

مصطلحات موضوعية: Male, Heterozygote, Respiratory chain, Mitochondrial fatty acid oxidation, Biology, Branched-chain amino acid metabolism, 03 medical and health sciences, 0302 clinical medicine, Pyruvate dehydrogenase complex, ECHS1, medicine, Humans, Genetics(clinical), Pharmacology (medical), Leigh disease, Child, Enoyl-CoA Hydratase, Genetics (clinical), 030304 developmental biology, Medicine(all), chemistry.chemical_classification, 0303 health sciences, Research, Infant, Newborn, Fatty acid, Infant, General Medicine, Enoyl-CoA hydratase, medicine.disease, 3. Good health, Pyruvate dehydrogenase deficiency, Crotonase, chemistry, Biochemistry, Lactic acidosis, Mutation, Female, Acyl Coenzyme A, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4b1325f218821d48eb3d04fb3e75e1
https://pubmed.ncbi.nlm.nih.gov/26081110