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Select item 95462501.

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser

J Inherit Metab Dis. 2022 Jul; 45(4): 804–818. Published online 2022 Apr 19. doi: 10.1002/jimd.12502

PMCID:: PMC9546250

Abstract Article PDF–1.7M

Select item 95428052.

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

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

J Inherit Metab Dis. 2022 Jul; 45(4): 819–831. Published online 2022 May 5. doi: 10.1002/jimd.12503

PMCID:: PMC9542805

Abstract Article PDF–1.9M

Select item 94586123.

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report

Nina N. Stolwijk, Mirjam Langeveld, Bart A. W. Jacobs, Liffert Vogt, Jorien A. Haverkamp, Sacha Ferdinandusse, Carla E. M. Hollak

JIMD Rep. 2022 Sep; 63(5): 407–413. Published online 2022 Jun 25. doi: 10.1002/jmd2.12309

PMCID:: PMC9458612

Abstract Article PDF–1.9M

Select item 89958344.

Reversible sensory neuropathy in mitochondrial trifunctional protein deficiency

Sarah Catharina Grünert, Matthias Eckenweiler, Ute Spiekerkoetter

JIMD Rep. 2022 May; 63(3): 207–210. Published online 2022 Mar 9. doi: 10.1002/jmd2.12279

PMCID:: PMC8995834

Abstract Article PDF–816K

Select item 86747025.

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

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

Mol Med Rep. 2022 Feb; 25(2): 47. Published online 2021 Dec 8. doi: 10.3892/mmr.2021.12563

PMCID:: PMC8674702

Abstract Article PDF–1.4M

Select item 80487636.

Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD

Gabriela Elizondo, Dietrich Matern, Jerry Vockley, Cary O. Harding, Melanie B. Gillingham

Mol Genet Metab. Author manuscript; available in PMC 2021 Sep 6.

Published in final edited form as: Mol Genet Metab. 2020 Sep-Oct; 131(1-2): 90–97. Published online 2020 Sep 6. doi: 10.1016/j.ymgme.2020.09.001

PMCID:: PMC8048763

Abstract Article PDF–856K

Select item 75218387.

Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health

Jason W. Miklas, Hannele Ruohola-Baker

J Cell Signal. Author manuscript; available in PMC 2020 Sep 28.

Published in final edited form as: J Cell Signal. 2020; 1(3): 97–101. doi: 10.33696/signaling.1.018

PMCID:: PMC7521838

Abstract Article PDF–678K

Select item 72640748.

Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency

Tomonori Suyama, Masaru Shimura, Takuya Fushimi, Naomi Kuranobu, Keiko Ichimoto, Ayako Matsunaga, Masaki Takayanagi, Kei Murayama

Mol Genet Metab Rep. 2020 Sep; 24: 100610. Published online 2020 May 30. doi: 10.1016/j.ymgmr.2020.100610

PMCID:: PMC7264074

Abstract Article PDF–433K

Select item 71180689.

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency

Mina Nakama, Hideo Sasai, Mitsuru Kubota, Yuki Hasegawa, Ryoji Fujiki, Torayuki Okuyama, Osamu Ohara, Toshiyuki Fukao

Hum Genome Var. 2020; 7: 10. Published online 2020 Apr 2. doi: 10.1038/s41439-020-0097-z

PMCID:: PMC7118068

Abstract Article PDF–787K

Select item 685866110.

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

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

Orphanet J Rare Dis. 2019; 14: 258. Published online 2019 Nov 15. doi: 10.1186/s13023-019-1226-y

PMCID:: PMC6858661

Abstract Article PDF–2.5M

Select item 612202811.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation

C. Bursle, R. Weintraub, C. Ward, R. Justo, J. Cardinal, D. Coman

JIMD Rep. 2018; 40: 91–95. Published online 2017 Nov 10. doi: 10.1007/8904_2017_68

PMCID:: PMC6122028

Abstract Article PDF–183K

Select item 587420712.

Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency

Peter van Vliet, Annelies E. Berden, Mojca K. M. van Schie, Jaap A. Bakker, Christian Heringhaus, Irenaeus F. M. de Coo, Mirjam Langeveld, Marielle A. Schroijen, M. Sesmu Arbous

JIMD Rep. 2018; 38: 101–105. Published online 2017 Jul 7. doi: 10.1007/8904_2017_37

PMCID:: PMC5874207

Abstract Article PDF–153K

Select item 547139313.

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family

Xiaona Fu, Feixia Zheng, Yao Zhang, Xinhua Bao, Shuang Wang, Yanling Yang, Hui Xiong

Mol Genet Metab Rep. 2015 Dec; 5: 80–84. Published online 2015 Nov 6. doi: 10.1016/j.ymgmr.2015.10.015

PMCID:: PMC5471393

Abstract Article PDF–821K

Select item 515504014.

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Donna B. Raval, Kristina P. Cusmano-Ozog, Omar Ayyub, Callie Jenevein, Laura H. Kofman, Brendan Lanpher, Natalie Hauser, Debra S. Regier

Mol Genet Metab Rep. 2017 Mar; 10: 8–10. Published online 2016 Dec 9. doi: 10.1016/j.ymgmr.2016.11.007

PMCID:: PMC5155040

Abstract Article PDF–181K

Select item 478935115.

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Ryosuke Bo, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Takeshi Taketani, Seiji Fukuda, Seiji Yamaguchi

Mol Genet Metab Rep. 2016 Mar; 6: 1–4. Published online 2015 Dec 5. doi: 10.1016/j.ymgmr.2015.11.005

PMCID:: PMC4789351

Abstract Article PDF–283K

Select item 357503816.

Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency

Eugène F. Diekman, Carolien C. A. Boelen, Berthil H. C. M. T. Prinsen, Lodewijk IJlst, Marinus Duran, Tom J. de Koning, Hans R. Waterham, Ronald J. A. Wanders, Frits A. Wijburg, Gepke Visser

JIMD Rep. 2013; 7: 1–6. Published online 2012 Mar 31. doi: 10.1007/8904_2012_128

PMCID:: PMC3575038

Abstract Article PDF–120K

Select item 335760517.

Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency

Masato Wakabayashi, Yuji Kamijo, Takero Nakajima, Naoki Tanaka, Eiko Sugiyama, Tian Yangyang, Takefumi Kimura, Toshifumi Aoyama

PPAR Res. 2012; 2012: 371691. Published online 2012 May 8. doi: 10.1155/2012/371691

PMCID:: PMC3357605

Abstract Article PDF–1.0M

Select item 281319518.

Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deWciency

Melanie B. Gillingham, Jonathan Q. Purnell, Julia Jordan, Diane Stadler, Andrea M. Haqq, Cary O. Harding

Mol Genet Metab. Author manuscript; available in PMC 2010 Jan 28.

Published in final edited form as: Mol Genet Metab. 2007 Jan; 90(1): 64. Published online 2006 Sep 22. doi: 10.1016/j.ymgme.2006.08.002

PMCID:: PMC2813195

Abstract Article PDF–464K

Select item 270683419.

Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency

Melanie B. Gillingham, Bradley Scott, Diane Elliott, Cary O. Harding

Mol Genet Metab. Author manuscript; available in PMC 2009 Jul 7.

Published in final edited form as: Mol Genet Metab. 2006; 89(1-2): 58–63. Published online 2006 Jul 27. doi: 10.1016/j.ymgme.2006.06.004

PMCID:: PMC2706834

Abstract Article PDF–305K

Select item 269405120.

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency

Melanie B. Gillingham, Richard G. Weleber, Martha Neuringer, William E. Connor, Monte Mills, Sandy van Calcar, James ver Hoeve, Jon Wolff, Cary O. Harding

Mol Genet Metab. Author manuscript; available in PMC 2009 Jun 9.

Published in final edited form as: Mol Genet Metab. 2005; 86(1-2): 124–133. Published online 2005 Jul 22. doi: 10.1016/j.ymgme.2005.06.001

PMCID:: PMC2694051

Abstract Article PDF–711K

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Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 3B

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