✦ LIBER ✦

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

✍ Scribed by R.J.A. Wanders; L. Ijlst; F. Poggi; J.P. Bonnefont; A. Munnich; M. Brivet; D. Rabier; J.M. Saudubray

Book ID: 115765341
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 500 KB
Volume: 188
Category: Article
ISSN: 0006-291X
DOI: 10.1016/0006-291x(92)91350-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mitochondrial trifunctional protein defi

Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement

✍ Margarethe E.J. den Boer; Carlo Dionisi-Vici; Anupam Chakrapani; Anders O.J. van 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 100 KB

Structural Analysis of cDNAs for Subunit

Structural Analysis of cDNAs for Subunits of Human Mitochondrial Fatty Acid β-Oxidation Trifunctional Protein

✍ T. Kamijo; T. Aoyama; A. Komiyama; T. Hashimoto 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 409 KB

Impaired fatty acid oxidation in a Droso

Impaired fatty acid oxidation in a Drosophila model of mitochondrial trifunctional protein (MTP) deficiency

✍ Yoshihito Kishita; Manabu Tsuda; Toshiro Aigaki 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 451 KB

Complete deficiency of mitochondrial tri

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the β-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid β-oxidation with fatal outcome

✍ Karl Schwab,Regina Ensenauer,Dietrich Matern… 📂 Article 📅 2003 🏛 Springer 🌐 English ⚖ 267 KB

The early-onset phenotype of mitochondri

The early-onset phenotype of mitochondrial trifunctional protein deficiency: A lethal disorder with multiple tissue involvement

✍ U. Spiekerkoetter; Z. Khuchua; Z. Yue; A. W. Strauss 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 47 KB

Regulation of mitochondrial fatty acid β

Regulation of mitochondrial fatty acid β-oxidation in human: What can we learn from inborn fatty acid β-oxidation deficiencies?

✍ Bastin, Jean 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 899 KB

The mitochondrial fatty acid β-oxidation (FAO) pathway plays a crucial role in ATP production in many tissues with high-energy demand. This is highlighted by the diverse and possibly severe clinical manifestations of inborn fatty acid β-oxidation deficiencies. More than fifteen genetic FAO enzyme de