المؤلفون: Murphy, Elaine^Aff3, Watkinson, Oliver^Aff4

المساهمون: Kumar, Dhavendra, editor^Aff1, Elliott, Perry, editor^Aff2

المصدر: Cardiovascular Genetics and Genomics : Principles and Clinical Practice. :189-237

المؤلفون: Knottnerus, Suzan J. G.^{Aff1, Aff2}, Bleeker, Jeannette C.^{Aff1, Aff2}, Wüst, Rob C. I., Ferdinandusse, Sacha, IJlst, Lodewijk, Wijburg, Frits A., Wanders, Ronald J. A., Visser, Gepke^{Aff1, Aff2}, Houtkooper, Riekelt H.^Aff2

المصدر: Reviews in Endocrine and Metabolic Disorders. 19(1):93-106

المؤلفون: Brass, Eric P.^Aff6

المساهمون: Borchardt, Ronald T., editor^Aff1, Russell Middaugh, C., editor, Stella, Valentino J., editor^Aff1, Hageman, Michael J., editor^Aff2, Oliyai, Reza, editor^Aff3, Maag, Hans, editor^Aff4, Tilley, Jefferson W., editor^Aff5

المصدر: Prodrugs : Challenges and Rewards Part 1. V:1125-1148

Degree: M.D., Ph.D.

المؤلفون: Robert Olek

المصدر: Kosmos. 69:777-784

مصطلحات موضوعية: medicine.medical_specialty, Trimethylamine, Stimulation, Metabolism, Carnitine transport, chemistry.chemical_compound, Key factors, Endocrinology, chemistry, Internal medicine, medicine, Myocyte, Exercise metabolism, Carnitine, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5182bb565728167f83702bbf8c7c5eb4
https://doi.org/10.36921/kos.2020_2706

المؤلفون: Han-Wook Yoo

المصدر: Journal of Lipid and Atherosclerosis

مصطلحات موضوعية: chemistry.chemical_classification, Metabolic defects of mFAO, Newborn screening, Opinion, business.industry, Endocrinology, Diabetes and Metabolism, Mitochondrial fatty acid β-oxidation (mFAO), Hypoketotic hypoglycemia, Fatty acid, Carnitine shuttle, Bioinformatics, medicine.disease, Carnitine transport, chemistry, Internal Medicine, medicine, Carnitine, medicine.symptom, Cardiology and Cardiovascular Medicine, Myopathy, business, Rhabdomyolysis, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d957ea9bcc35187f1faeb799b181c7fa
http://europepmc.org/articles/PMC7838517

المؤلفون: Janet Haasjes, Frédéric M. Vaz, Sacha Ferdinandusse, Merel S. Ebberink, Ronald J.A. Wanders, Jos P.N. Ruiter, W. Oostheim, Henk van Lenthe, Hans R. Waterham, Heleen te Brinke, Lodewijk IJlst

المساهمون: Amsterdam Reproduction & Development (AR&D), AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development, APH - Methodology, APH - Personalized Medicine

المصدر: Human Mutation
Human Mutation, 40(10), 1899-1904. Wiley-Liss Inc.
Human mutation, 40(10), 1899-1904. Wiley-Liss Inc.

مصطلحات موضوعية: Untranslated region, Five prime untranslated region, carnitine transport, Codon, Initiator, SLC22A5, Carnitine transport, Cell Line, 03 medical and health sciences, Eukaryotic translation, Gene Frequency, Muscular Diseases, Genes, Reporter, primary or systemic carnitine deficiency, Carnitine, Genetics, medicine, Humans, Hyperammonemia, Genetic Predisposition to Disease, Amino Acid Sequence, Solute Carrier Family 22 Member 5, Allele frequency, Genetics (clinical), Research Articles, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, biology, Base Sequence, 030305 genetics & heredity, Biological Transport, 5′‐untranslated region, OCTN2 deficiency, Mutation, biology.protein, Primary Carnitine Deficiency, 5' Untranslated Regions, Cardiomyopathies, medicine.drug, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fcf2567494cda2778e173cc44b21149
http://europepmc.org/articles/PMC6790604

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Robert S. Jones, Melanie A. Felmlee, Marilyn E. Morris, Kristin E. Follman, Vivian Rodriguez-Cruz

المصدر: Pharmacol Rev

مصطلحات موضوعية: Monocarboxylic Acid Transporters, 0301 basic medicine, Transcription, Genetic, Pharmacology, Blood–brain barrier, Carnitine transport, Structure-Activity Relationship, 03 medical and health sciences, 0302 clinical medicine, Metabolic Diseases, medicine, Animals, Humans, Glucose homeostasis, Tissue Distribution, Review Articles, Monocarboxylate transporter, biology, Chemistry, Transporter, Solute carrier family, 030104 developmental biology, medicine.anatomical_structure, biology.protein, Molecular Medicine, 030217 neurology & neurosurgery, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d11caae05e58e76bd12db0168474af8
https://doi.org/10.1124/pr.119.018762

المؤلفون: Kate Lichkus, Michel Tchan, Beena Devanapalli, Troy Dalkeith, Susan Thompson, Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Sodium, chemistry.chemical_element, lcsh:Medicine, Ketone Bodies, Mitochondrion, Bioinformatics, Enteral administration, Carnitine transport, Carnitine, medicine, Humans, Pharmacology (medical), Genetics (clinical), 3-hydroxyl-3-methylglutaryl-CoA lyase deficiency (HMGCLD), Ketone body, 3-Hydroxybutyric Acid, business.industry, Carnitine acyl-carnitine translocase deficiency (CACTD), Research, Fatty Acids, lcsh:R, General Medicine, Metabolism, Ketones, Fat oxidation, chemistry, Ketone bodies, business, Energy source, Carnitine palmitoyl transferase II deficiency (CPT2D), 3-hydroxybutyrate, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337ca4412851d197ab9370b123d9e825
http://link.springer.com/article/10.1186/s13023-020-1316-x

المؤلفون: Hyun-Seok Cho, Young Kwang Choo, Hong Jin Lee, Hyeon-Soo Lee

المصدر: Korean Journal of Pediatrics, Vol 55, Iss 2, Pp 58-62 (2012)

مصطلحات موضوعية: Transient carnitine transport defect, Cholestatic jaundice, Poor weight gain, Prematurity, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://kjp.or.kr/upload/pdf/kjped-55-58.pdf; https://doaj.org/toc/1738-1061; https://doaj.org/toc/2092-7258

URL الوصول: https://doaj.org/article/256e30770d204581876e4912b27752e8