المؤلفون: Sarah Catharina Grünert, Matthias Eckenweiler, Ute Spiekerkoetter

المصدر: JIMD Reports, Vol 63, Iss 3, Pp 207-210 (2022)

مصطلحات موضوعية: electrophysiology, LCHAD, long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency, MTP, nerve conduction, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/479e07f645cc4cebae7099a13d2b6debTest

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

العلاقة: https://dspace.library.uu.nl/handle/1874/446411Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/446411Test

المؤلفون: Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips, Chris Stinton

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-18 (2019)

مصطلحات موضوعية: Systematic review, Long-chain 3-hydroxyacyl-CoA dehydrogenase, Mitochondrial trifunctional protein deficiency, Inborn errors of metabolism, Long-term outcomes, Newborn screening, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1226-yTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/fd6caeb2dcea4cc9b5fb9d38ccebabd8Test

المؤلفون: Yuqing Guan, Yanxia Zhang, Xin-Ming Shen, Liang Zhou, Xuan Shang, Yu Peng, Yafang Hu, Wei Li

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: mitochondrial trifunctional protein deficiency, HADHB, peripheral neuropathy, Charcot-Marie-Tooth disease, rhabdomyolysis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.694966/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/f653b496ea5347feb6028c7996117668Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902cTest
https://pubmed.ncbi.nlm.nih.gov/35403730Test

المؤلفون: Sung Yoon Cho, Jeehun Lee, Ji Won Lee, Chan Kim, Dajeong Lee

المصدر: Annals of Child Neurology, Vol 29, Iss 4, Pp 194-198 (2021)

مصطلحات موضوعية: Genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, Mitochondrial trifunctional protein deficiency, Biology, medicine.disease, RC31-1245, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Neurology. Diseases of the nervous system, RC346-429, Internal medicine, Exome sequencing, HADHB, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e77e68577c855584a44594eb1fda47aTest
http://www.annchildneurol.org/upload/pdf/acn-2021-00416.pdfTest

المؤلفون: Sarah C. Grünert, Ute Spiekerkoetter, Martin Lindner, Matthias Eckenweiler, Dorothea Haas, René Santer, Sara Tucci, Konstantinos Tsiakas

المصدر: Journal of Inherited Metabolic Disease. 44:893-902

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Fulminant, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Early initiation, Gastroenterology, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Young Adult, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Newborn screening, biology, Mitochondrial Trifunctional Protein, business.industry, 030305 genetics & heredity, Age Factors, Infant, Newborn, Infant, Mitochondrial Myopathies, Peripheral Nervous System Diseases, medicine.disease, Pathophysiology, Phenotype, Peripheral neuropathy, Child, Preschool, biology.protein, Female, Nervous System Diseases, Cardiomyopathies, Complication, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5992d0eb3b516c8d0bc23d0e979938Test
https://doi.org/10.1002/jimd.12372Test

المؤلفون: Xuan Shang, Yuqing Guan, Xin-Ming Shen, Yu Peng, Liang Zhou, Wei Li, Yanxia Zhang, Yafang Hu

المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology

مصطلحات موضوعية: medicine.medical_specialty, peripheral neuropathy, Diet therapy, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Charcot-Marie-Tooth disease, Internal medicine, Medicine, RC346-429, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, mitochondrial trifunctional protein deficiency, Brief Research Report, medicine.disease, Compound muscle action potential, Peripheral neuropathy, Endocrinology, Neurology, rhabdomyolysis, biology.protein, Neurology. Diseases of the nervous system, Neurology (clinical), business, Rhabdomyolysis, HADHB

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2702d72323cf9d0ea4d3c8d148eb0b9Test
https://doi.org/10.3389/fneur.2021.694966Test

المؤلفون: Jinling Yang, Dejian Yuan, Xiaohui Tan, Yexi Zeng, Ning Tang, Dayu Chen, Jianqiang Tan, Ren Cai, Jun Huang, Tizhen Yan

المصدر: Molecular Medicine Reports

مصطلحات موضوعية: Male, Models, Molecular, Cancer Research, Heterozygote, Protein Conformation, Biochemistry, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Asian People, Multienzyme Complexes, Genetics, Humans, Genetic Predisposition to Disease, metabolic crisis, structural analysis, Genetic Testing, Molecular Biology, Mitochondrial Trifunctional Protein, Infant, Mitochondrial Myopathies, Articles, mitochondrial trifunctional protein deficiency, Pedigree, Phenotype, Oncology, Child, Preschool, Mutation, Molecular Medicine, HADHA, Female, Mitochondrial Trifunctional Protein, alpha Subunit, Nervous System Diseases, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1771b945840137f59940e4f19cebd3Test
http://europepmc.org/articles/PMC8674702Test

المؤلفون: Jay Leb, Elena Donald, Martin Bialer, Kelly Axsom

المصدر: JACC: Case Reports, Vol 2, Iss 7, Pp 1066-1069 (2020)
JACC Case Reports

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, TTE, transthoracic echocardiogram, Cardiomyopathy, Case Report, 030105 genetics & heredity, Third trimester, 03 medical and health sciences, 0302 clinical medicine, Clinical Case, MTPD, mitochondrial trifunctional protein deficiency, LVEF, left ventricular ejection fraction, RV, right ventricle/ventricular, medicine, Diseases of the circulatory (Cardiovascular) system, genetic disorders, Pregnancy, Past medical history, business.industry, medicine.disease, lipid metabolism disorders, Heart failure, RC666-701, Etiology, pregnancy, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, cardiomyopathy, 030217 neurology & neurosurgery, Postpartum period, GDMT, guideline-directed medical therapy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99434e794b993865ce606d2dd9679819Test
http://www.sciencedirect.com/science/article/pii/S266608492030485XTest