PMC Articles for MedGen (Select 1841329) - PMC

Select item 110847241.

D-Bifunctional Protein Deficiency Diagnosis—A Challenge in Low Resource Settings: Case Report and Review of the Literature

Maria Livia Ognean, Ioana Bianca Mutică, Gabriela Adriana Vișa, Ciprian Radu Șofariu, Claudiu Matei, Bogdan Neamțu, Manuela Cucerea, Radu Galiș, Gabriela Ariadna Cocișiu, Ioana Octavia Mătăcuță-Bogdan

Int J Mol Sci. 2024 May; 25(9): 4924. Published online 2024 Apr 30. doi: 10.3390/ijms25094924

PMCID:: PMC11084724

Article PDF–1.3M

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

Article PDF–1.9M

Select item 86747023.

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

Article PDF–1.4M

Select item 80487634.

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

Article PDF–856K

Select item 50355905.

Characterization of chorioretinopathy associated with mitochondrial trifunctional protein disorders: Long-term follow-up of 21 cases

Erin A. Boese, Nieraj Jain, Yali Jia, Catie L. Schlechter, Cary O. Harding, Simon S. Gao, Rachel C. Patel, David Huang, Richard G. Weleber, Melanie B. Gillingham, Mark E. Pennesi

Ophthalmology. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Ophthalmology. 2016 Oct; 123(10): 2183–2195. Published online 2016 Aug 2. doi: 10.1016/j.ophtha.2016.06.048

PMCID:: PMC5035590

Article PDF–2.1M

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