PMC Articles for MedGen (Select 778253) - PMC

Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy

JIMD Rep. 2022 Jul; 63(4): 265–270. Published online 2022 Apr 12. doi: 10.1002/jmd2.12284

PMCID:: PMC9259390

Abstract Article PDF–777K

Select item 91679675.

Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database

Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S. Kirby, Mathew J. Edick, Susan A. Berry, Georgianne L. Arnold

Mol Genet Metab Rep. 2022 Sep; 32: 100884. Published online 2022 Jun 3. doi: 10.1016/j.ymgmr.2022.100884

PMCID:: PMC9167967

Abstract Article PDF–898K

Select item 42412066.

Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment

D. Karall, G. Mair, U. Albrecht, K. Niedermayr, T. Karall, W. Schobersberger, S. Scholl-Bürgi

JIMD Rep. 2014; 17: 7–12. Published online 2014 Jul 6. doi: 10.1007/8904_2014_313

PMCID:: PMC4241206

Abstract Article PDF–402K

Select item 44077797.

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, Vassiliki Konstantopoulou, Esther M Maier, Dorothea Möslinger, Barbara Plecko, Wolfgang Sperl, Barbara Volkmar, Sabine Scholl-Bürgi

Orphanet J Rare Dis. 2015; 10: 21. Published online 2015 Feb 22. doi: 10.1186/s13023-015-0236-7

PMCID:: PMC4407779

Abstract Article PDF–654K

Select item 50591958.

Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

A. Strandqvist, C. Bieneck Haglind, R. H. Zetterström, A. Nemeth, U. von Döbeln, M. Halldin Stenlid, A. Nordenström

JIMD Rep. 2016; 28: 75–84. Published online 2015 Nov 7. doi: 10.1007/8904_2015_505

PMCID:: PMC5059195

Abstract Article PDF–188K

Select item 84697759.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study

Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich, Tomáš Honzík

Nutrients. 2021 Sep; 13(9): 2925. Published online 2021 Aug 24. doi: 10.3390/nu13092925

PMCID:: PMC8469775

Abstract Article PDF–2.4M

Select item 924821910.

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

Anne-Frédérique Dessein, Eléonore Hebbar, Joseph Vamecq, Elodie Lebredonchel, Aurore Devos, Jamal Ghoumid, Karine Mention, Dries Dobbelaere, Marie Joncquel Chevalier-Curt, Monique Fontaine, Sabine Defoort, Vassily Smirnov, Claire Douillard, Claire-Marie Dhaenens

Mol Genet Metab Rep. 2022 Jun; 31: 100860. Published online 2022 Mar 15. doi: 10.1016/j.ymgmr.2022.100860

PMCID:: PMC9248219

Abstract Article PDF–4.4M

Select item 804876311.

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 535537812.

Management of an LCHADD Patient During Pregnancy and High Intensity Exercise

D. C. D. van Eerd, I. A. Brussé, V. F. R. Adriaens, R. T. Mankowski, S. F. E. Praet, M. Michels, M. Langeveld

JIMD Rep. 2017; 32: 95–100. Published online 2016 Jun 23. doi: 10.1007/8904_2016_561

PMCID:: PMC5355378

Abstract Article PDF–140K

Select item 538864413.

Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency

Irene De Biase, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali, Nicola Longo

JIMD Rep. 2017; 31: 63–71. Published online 2016 Apr 28. doi: 10.1007/8904_2016_558

PMCID:: PMC5388644

Abstract Article PDF–457K

Select item 765324214.

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

Parith Wongkittichote, James R. Watson, Jennifer M. Leonard, Elizabeth R. Toolan, Patricia I. Dickson, Dorothy K. Grange

JIMD Rep. 2020 Nov; 56(1): 40–45. Published online 2020 Sep 10. doi: 10.1002/jmd2.12165

PMCID:: PMC7653242

Abstract Article PDF–707K

Select item 566783915.

High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland

Bogusław Nedoszytko, Alicja Siemińska, Dominik Strapagiel, Sławomir Dąbrowski, Marcin Słomka, Marta Sobalska-Kwapis, Błażej Marciniak, Jolanta Wierzba, Jarosław Skokowski, Marcin Fijałkowski, Roman Nowicki, Leszek Kalinowski

PLoS One. 2017; 12(11): e0187365. Published online 2017 Nov 2. doi: 10.1371/journal.pone.0187365

PMCID:: PMC5667839

Abstract Article PDF–5.7M

Select item 581853116.

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Judith Hagenbuchner, Sabine Scholl-Buergi, Daniela Karall, Michael J. Ausserlechner

Sci Rep. 2018; 8: 3254. Published online 2018 Feb 19. doi: 10.1038/s41598-018-21519-2

PMCID:: PMC5818531

Abstract Article PDF–4.2M

Select item 605380017.

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier

Orphanet J Rare Dis. 2018; 13: 122. Published online 2018 Jul 20. doi: 10.1186/s13023-018-0875-6

PMCID:: PMC6053800

Abstract Article PDF–592K

Select item 662021418.

Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association

Gurinder Kumar, Rajendran Nair, Bassem Soliman Hendawy, Omar Ahmed AlShkeili, Ahmed Abdulla Alabdouli, Adnan Mohamed Al Ali, Amal Mohamed Jasem AlTenaiji

CEN Case Rep. 2019 Aug; 8(3): 173–177. Published online 2019 Feb 12. doi: 10.1007/s13730-019-00387-3

PMCID:: PMC6620214

Abstract Article PDF–648K

Select item 996915719.

A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD—A call to focus on the basics while utilizing advanced new therapies

Marina Metzler, William Burns, Carly Mitchell, Stephanie Napolitano, Bimal P. Chaudhari

Front Pediatr. 2023; 11: 1081802. Published online 2023 Feb 13. doi: 10.3389/fped.2023.1081802

PMCID:: PMC9969157

Abstract Article PDF–1.2M

Select item 4271620.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

H F Sims, J C Brackett, C K Powell, W R Treem, D E Hale, M J Bennett, B Gibson, S Shapiro, A W Strauss

Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3): 841–845. doi: 10.1073/pnas.92.3.841

PMCID:: PMC42716

Summary Page Browse PDF–1.4M

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