scholarly journals Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations

2021 ◽  
Vol 25 (2) ◽  
Author(s):  
Jinling Yang ◽  
Dejian Yuan ◽  
Xiaohui Tan ◽  
Yexi Zeng ◽  
Ning Tang ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Protein Deficiency ◽  
Hadha Gene ◽  
Mitochondrial Trifunctional Protein

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence

2011 ◽  
Vol 104 (4) ◽  
pp. 556-559 ◽  
Author(s):  
Mariko Yagi ◽  
Tomoko Lee ◽  
Hiroyuki Awano ◽  
Masahiro Tsuji ◽  
Go Tajima ◽  
...  
Keyword(s):  
Early Childhood ◽  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein

Mitochondrial trifunctional protein deficiency: A rare cause of adult-onset rhabdomyolysis

2013 ◽  
Vol 48 (6) ◽  
pp. 989-991 ◽  
Author(s):  
Teerin Liewluck ◽  
Manpreet S. Mundi ◽  
Michelle L. Mauermann
Keyword(s):  
Protein Deficiency ◽  
Adult Onset ◽  
Mitochondrial Trifunctional Protein

scholarly journals Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

1997 ◽  
Vol 20 (6) ◽  
pp. 835-836 ◽  
Author(s):  
S. Grünewald ◽  
J. Bakkeren ◽  
R. A. Wanders ◽  
U. Wendel
Keyword(s):  
Respiratory Chain ◽  
Protein Deficiency ◽  
Respiratory Chain Defect ◽  
Mitochondrial Trifunctional Protein

P4.56 Early and severe axonal motor neuropathy and cardiomyopathy in a patient with mitochondrial trifunctional protein deficiency

2010 ◽  
Vol 20 (9-10) ◽  
pp. 675
Author(s):  
A.N. Nascimento Osorio ◽  
C.O. Ortez ◽  
A.G. Gutierrez ◽  
C.J.M. Jimenez-Mallebrera ◽  
J.G.V. Garcia Villoria ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Motor Neuropathy ◽  
Mitochondrial Trifunctional Protein

scholarly journals Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

2015 ◽  
Vol 39 (1) ◽  
pp. 47-58 ◽  
Author(s):  
Fatima Djouadi ◽  
Florence Habarou ◽  
Carole Le Bachelier ◽  
Sacha Ferdinandusse ◽  
Dimitri Schlemmer ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Cultured Fibroblasts ◽  
Mitochondrial Trifunctional Protein

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

2009 ◽  
Vol 98 (4) ◽  
pp. 372-377 ◽  
Author(s):  
Jamiyan Purevsuren ◽  
Toshiyuki Fukao ◽  
Yuki Hasegawa ◽  
Hironori Kobayashi ◽  
Hong Li ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein ◽  
Molecular Aspects

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

1996 ◽  
Vol 129 (1) ◽  
pp. 159-162 ◽  
Author(s):  
Carlo Dionisi-Vici ◽  
Barbara Garavaglia ◽  
Alberto B. Burlina ◽  
Enrico Bertini ◽  
Isora Saponara ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Mitochondrial Trifunctional Protein

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

2003 ◽  
Vol 142 (6) ◽  
pp. 684-689 ◽  
Author(s):  
Margarethe E.J. den Boer ◽  
Carlo Dionisi-Vici ◽  
Anupam Chakrapani ◽  
Anders O.J. van Thuijl ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Protein Deficiency ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Neurologic Involvement ◽  
Mitochondrial Trifunctional Protein

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults

2020 ◽  
Vol 176 (5) ◽  
pp. 380-386 ◽  
Author(s):  
Y. Nadjar ◽  
S. Souvannanorath ◽  
T. Maisonobe ◽  
M. Brisset ◽  
P. De Lonlay ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Clinical Feature ◽  
Sensory Neuronopathy ◽  
Mitochondrial Trifunctional Protein
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