Zobrazeno 1 - 10 of 244 pro vyhledávání: '"trifunctional protein deficiency"'
1
Akademický článek
Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency
Autor: Sarah Catharina Grünert, Matthias Eckenweiler, Ute Spiekerkoetter
Publikováno v: JIMD Reports, Vol 63, Iss 3, Pp 207-210 (2022)
Abstract Axonal peripheral neuropathy is a common complication of mitochondrial trifunctional protein (MTP) deficiency and long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency that is usually considered progressive. Current treatment strategie
Externí odkaz: https://doaj.org/article/479e07f645cc4cebae7099a13d2b6deb
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2
Akademický článek
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3
Akademický článek
Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy
Autor: Yuqing Guan, Yanxia Zhang, Xin-Ming Shen, Liang Zhou, Xuan Shang, Yu Peng, Yafang Hu, Wei Li
Publikováno v: Frontiers in Neurology, Vol 12 (2021)
A 29-year-old female experienced chronic progressive peripheral neuropathy since childhood and was diagnosed with Charcot–Marie–Tooth disease (CMT) at age 15. She developed recurrent, fever-induced rhabdomyolysis (RM) at age 24. EMG studies showe
Externí odkaz: https://doaj.org/article/f653b496ea5347feb6028c7996117668
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4
Akademický článek
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review
Autor: Hannah Fraser, Julia Geppert, Rebecca Johnson, Samantha Johnson, Martin Connock, Aileen Clarke, Sian Taylor-Phillips, Chris Stinton
Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-18 (2019)
Abstract Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies are rare fatty acid β-oxidation disorders. Without dietary management the conditions are life-threatening. We conducted
Externí odkaz: https://doaj.org/article/fd6caeb2dcea4cc9b5fb9d38ccebabd8
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5
Akademický článek
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6
Akademický článek
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8
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Autor: 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
Publikováno v: Journal of inherited metabolic disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands
Mitochondrial trifunctional protein (MTP) is involved in long-chain fatty acid β-oxidation (lcFAO). Deficiency of one or more of the enzyme activities as catalyzed by MTP causes generalized MTP deficiency (MTPD), long-chain hydroxyacyl-CoA dehydroge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902c
https://pubmed.ncbi.nlm.nih.gov/35403730
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9
Charcot–Marie–Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy
Autor: Xuan Shang, Yuqing Guan, Xin-Ming Shen, Yu Peng, Liang Zhou, Wei Li, Yanxia Zhang, Yafang Hu
Publikováno v: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
A 29-year-old female experienced chronic progressive peripheral neuropathy since childhood and was diagnosed with Charcot–Marie–Tooth disease (CMT) at age 15. She developed recurrent, fever-induced rhabdomyolysis (RM) at age 24. EMG studies showe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2702d72323cf9d0ea4d3c8d148eb0b9
https://doi.org/10.3389/fneur.2021.694966
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10
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Autor: Sarah C. Grünert, Ute Spiekerkoetter, Martin Lindner, Matthias Eckenweiler, Dorothea Haas, René Santer, Sara Tucci, Konstantinos Tsiakas
Publikováno v: Journal of Inherited Metabolic Disease. 44:893-902
Peripheral neuropathy is a known irreversible long-term complication of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) and mitochondrial trifunctional protein deficiency (MTPD), two inherited disorders of mitochondrial long-chain fatt
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5992d0eb3b516c8d0bc23d0e979938
https://doi.org/10.1002/jimd.12372
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