المؤلفون: Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P.N., Fuchs, Sabine A., Darin, Niklas, Hedberg-Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha

المساهمون: Metabole ziekten onderzoek 2, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, Genetics, Genetics(clinical), Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446411

الاتاحة: https://dspace.library.uu.nl/handle/1874/446411

المؤلفون: Marit Schwantje, Merel S. Ebberink, Mirjam Doolaard, Jos P. N. Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg‐Oldfors, Luc Régal, Laura Donker Kaat, Hidde H. Huidekoper, Simon Olpin, Duncan Cole, Stuart J. Moat, Gepke Visser, Sacha Ferdinandusse

المساهمون: Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics

المصدر: Journal of inherited metabolic disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands

مصطلحات موضوعية: Delayed Diagnosis, mitochondrial trifunctional protein complex, Adolescent, Muscular Diseases/diagnosis, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Muscular Diseases, Genetics, Humans, Coenzyme A, Child, Genetics (clinical), long-chain ketoacyl-CoA thiolase deficiency, Mitochondrial Trifunctional Protein, Fatty Acids, long-chain fatty acid oxidation disorders, thermo-sensitivity, 3-Hydroxyacyl CoA Dehydrogenases, Mitochondrial Myopathies, Mitochondrial Trifunctional Protein/deficiency, mitochondrial trifunctional protein deficiency, Lipid Metabolism, Inborn Errors/diagnosis, Fatty Acids/metabolism, Child, Preschool, Nervous System Diseases, Mitochondrial Myopathies/diagnosis, Cardiomyopathies, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902c
https://pubmed.ncbi.nlm.nih.gov/35403730

المؤلفون: Lemonde, HA, Custard, EJ, Bouquet, J, Duran, M, Overmars, H, Scambler, PJ, Clayton, PT

المصدر: GUT , 52 (10) 1494 - 1499. (2003)

مصطلحات موضوعية: BILE-ACID SYNTHESIS, INCREASED URINARY-EXCRETION, GIANT-CELL HEPATITIS, 5 BETA-REDUCTASE, CHENODEOXYCHOLIC ACID, MASS-SPECTROMETRY, INBORN ERROR, CHOLIC-ACID, BIFUNCTIONAL PROTEIN, THIOLASE DEFICIENCY

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/8638/1/8638.pdf; https://discovery.ucl.ac.uk/id/eprint/8638/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/8638/1/8638.pdf
https://discovery.ucl.ac.uk/id/eprint/8638/

المؤلفون: Cécile Acquaviva, Didier Dupont, Dominique De Ricaud, Susanne Thümmler, Toshiyuki Fukao

المصدر: The Tohoku Journal of Experimental Medicine. 2010, 220(1):27

المؤلفون: Khanh Ngoc Nguyen, Toshiyuki Fukao, Dung Chi Vu, Ngoc Thi Bich Can, Mai Thi Thanh Do, Thao Phuong Bui, Hoan Thi Nguyen

مصطلحات موضوعية: Genetics, Vietnamese, Beta-ketothiolase deficiency, T2 Deficiency, language, Phenotype genotype, medicine, Newborn Screening, Inborn Errors of Metabolism, Mitochondrial Acetoacetyl-CoA Thiolase deficiency, General Medicine, Biology, medicine.disease, language.human_language

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c685196003f7ea687064b7eb267e41
https://europepmc.org/articles/PMC5641784/

المؤلفون: Hideo, Sasai, Yuka, Aoyama, Hiroki, Otsuka, Elsayed, Abdelkreem, Mina, Nakama, Tomohiro, Hori, Hidenori, Ohnishi, Lesley, Turner, Toshiyuki, Fukao

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: T2 deficiency, ACAT1, polypyrimidine stretch, splice acceptor site, mitochondrial acetoacetyl‐CoA thiolase deficiency, Original Article, Original Articles, exon skipping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d42fb5d212809f4edc05e2b11fd022fb
https://pubmed.ncbi.nlm.nih.gov/28361105

المؤلفون: Babak Soltani, Kobra Shiasi Arani

المصدر: International Journal of Endocrinology and Metabolism

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, 3-Oxothiolase Deficiency, business.industry, Endocrinology, Diabetes and Metabolism, Beta-ketothiolase deficiency, Metabolic disorder, Metabolic acidosis, Case Report, medicine.disease, Kowsar, Lethargy, Endocrinology, Internal medicine, Beta-ketothiolase Deficiency, medicine, Vomiting, Methylacetoacetyl-CoA Thiolase Deficiency, medicine.symptom, Ketosis, business, Acidosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f31948b095100e860dad9f2cdfbd67c
http://europepmc.org/articles/PMC3997948

المؤلفون: E Pospisilová, Toshiyuki Fukao, Naomi Kondo, Petr Chrastina, D Pribyl, L. Mrázová, V Kohút, E Gregová, K Hálovd

المصدر: Journal of inherited metabolic disease. 28(2)

مصطلحات موضوعية: Genetics, Male, Mutation, Genotype, Thiolase, Mutation, Missense, Infant, Biology, medicine.disease_cause, humanities, Mitochondria, Child, Preschool, medicine, Missense mutation, Mitochondrial Acetoacetyl-CoA Thiolase deficiency, Inborn errors metabolism, Humans, Metabolic disease, Acetyl-CoA C-Acetyltransferase, Genetics (clinical), Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99186c4fb2cb69f6d985fb68080efa39
https://pubmed.ncbi.nlm.nih.gov/15877211

المؤلفون: J. Duprey, G. Renom, D. Dobbelaere, P. M. Degand, M. O. Rolland, M. Fontaine

المصدر: Journal of inherited metabolic disease. 23(7)

مصطلحات موضوعية: chemistry.chemical_classification, Male, 2-Methylacetoacetyl CoA thiolase deficiency, Biology, Acetyl-CoA C-Acyltransferase, Human genetics, Enzyme, Biochemistry, chemistry, Acyltransferases, Child, Preschool, Genetics, Acetyl-CoA C-acetyltransferase, Humans, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09a71848ab809853746d9aa186420f9
https://pubmed.ncbi.nlm.nih.gov/11117436

المؤلفون: Neziha Kaabachi, Kamel Monastiri, K. Limam, M. N. Guediche, F. Amri

المصدر: Journal of Inherited Metabolic Disease. 22:932-933

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, 2-Methylacetoacetyl CoA thiolase deficiency, Tunisia, Disease, Fibroblasts, Acetyl-CoA C-Acyltransferase, Enzyme, Endocrinology, chemistry, Biochemistry, Acyltransferases, Internal medicine, Genetics, medicine, Ketone bodies, Humans, Isoleucine, Metabolism, Inborn Errors, Genetics (clinical), β ketothiolase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a3c9b95117e3ea823ec8ce66e317f72
https://doi.org/10.1023/a:1005695524913

المؤلفون: Oddmund Søvik, B. Christensen, J. A. Arranz, F. Castelló, Antonia Ribes, Celia Pérez-Cerdá, Diego Yeste, J. Mora, Encarnació Riudor

المصدر: Journal of Inherited Metabolic Disease. 18:748-749

مصطلحات موضوعية: Coma, medicine.medical_specialty, 2-Methylacetoacetyl CoA thiolase deficiency, business.industry, Maple syrup urine disease, Metabolic disorder, Infant, Ketosis, Acetyl-CoA C-Acyltransferase, medicine.disease, Ketoacidosis, Endocrinology, Hyperglycemia, Internal medicine, Genetics, medicine, Humans, Acetyl-CoA C-acetyltransferase, Female, medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39477880b586523b5786b8fb1f1421ef
https://doi.org/10.1007/bf02436766

المؤلفون: August Roesel, F. A. Hommes, Lee Carter, Patricia L. Hartlage, Gary Eller

المصدر: Biochemical Medicine and Metabolic Biology. 36:198-206

مصطلحات موضوعية: medicine.medical_specialty, Chromatography, Gas, Endocrinology, Diabetes and Metabolism, Carboxylic Acids, Mitochondria, Liver, Ketone Bodies, Urine, Biology, Biochemistry, Internal medicine, medicine, Humans, Lactic Acid, Normal control, Growth Disorders, chemistry.chemical_classification, medicine.diagnostic_test, Thiolase, Ketosis, Acetyl-CoA C-Acyltransferase, medicine.disease, Endocrinology, Enzyme, chemistry, Child, Preschool, Liver biopsy, Lactates, Mitochondrial Acetoacetyl-CoA Thiolase deficiency, Acidosis, Lactic, Female, Acyltransferases, Intracellular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aedd02f03f61276005c1bbf62706931
https://doi.org/10.1016/0885-4505(86)90125-8

المؤلفون: Fa Hommes, G Luitdehaan, Cj Degroot

المصدر: Pediatric Research. 10:884-884

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Thiolase, medicine.medical_treatment, Biology, Cytosol, Endocrinology, Enzyme, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Mole, medicine, Ketone bodies, Blood lactate, Cytosolic acetoacetyl-CoA thiolase deficiency, Ketogenic diet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::de038cc885fa24145e4622414f419f95
https://doi.org/10.1203/00006450-197610000-00073

المؤلفون: Ce Hulstaert, Fa Hoomes, Cj Degroot, G Luitdehaan

المصدر: Pediatric Research. 11:1116

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Glycogen, Human liver, Thiolase, Substrate (chemistry), Cytosol, chemistry.chemical_compound, Endocrinology, Enzyme, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Acetoacetyl-CoA thiolase deficiency, medicine, Subcutaneous adipose tissue

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e90f30c9a475c65988fe06453fed6447
https://doi.org/10.1203/00006450-197711100-00011

المؤلفون: Bruce Middleton, R. G. F. Gray, G. W. Lowther, M. J. Bennett, J. M. Littlewood

المصدر: Journal of Medical Genetics. 21:397-397

مصطلحات موضوعية: Monosomy, 2-Methylacetoacetyl CoA thiolase deficiency, X Chromosome, Mosaicism, Infant, Turner Syndrome, Chromosome, Aneuploidy, Biology, medicine.disease, Molecular biology, Acetyl coA acetyltransferase, Acetyltransferases, Genetics, medicine, Humans, Female, Acetyl-CoA C-Acetyltransferase, Sex Chromosome Aberrations, Genetics (clinical), X chromosome, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37dcba5fe90f3c3a5c58e249b1269a74
https://doi.org/10.1136/jmg.21.5.397