PMC Articles for MedGen (Select 83349) - PMC

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Items: 14

Select item 82990971.

3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Hedyeh Saneifard, Asieh Mosallanejad, Aida Fallahzadeh, Ali Sheikhy

Clin Case Rep. 2021 Jul; 9(7): e04528. Published online 2021 Jul 23. doi: 10.1002/ccr3.4528

PMCID:: PMC8299097

Abstract Article PDF–225K

Select item 78468982.

MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency

Kelsey R. Casano, Maura E. Ryan, Alma R. Bicknese, Divakar S. Mithal

Radiol Case Rep. 2021 Apr; 16(4): 807–810. Published online 2021 Jan 27. doi: 10.1016/j.radcr.2021.01.021

Correction in:: Radiol Case Rep. 2023 Mar; 18(3): 1394–1395.

PMCID:: PMC7846898

Abstract Article PDF–723K

Select item 73897603.

3-羟基异丁酰辅酶A水解酶缺乏症一例诊治体会并文献复习

杨海燕, 吴丽文, 邓小鹿, 尹飞, 杨丽芬

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Aug 25; 20(8): 647–651. Chinese. doi: 10.7499/j.issn.1008-8830.2018.08.009

PMCID:: PMC7389760

Abstract Article PDF–1.9M

Select item 63894744.

3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations

Parvaneh Karimzadeh, Mohammad Saberi, Kobra Sheidaee, Mitra Nourbakhsh, Mohammad Keramatipour

Clin Case Rep. 2019 Feb; 7(2): 375–380. Published online 2019 Jan 15. doi: 10.1002/ccr3.1998

PMCID:: PMC6389474

Abstract Article PDF–322K

Select item 51213615.

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis

Kenichiro Yamada, Misako Naiki, Shin Hoshino, Yasuyuki Kitaura, Yusuke Kondo, Noriko Nomura, Reiko Kimura, Daisuke Fukushi, Yasukazu Yamada, Nobuyuki Shimozawa, Seiji Yamaguchi, Yoshiharu Shimomura, Kiyokuni Miura, Nobuaki Wakamatsu

Mol Genet Metab Rep. 2014; 1: 455–460. Published online 2014 Oct 16. doi: 10.1016/j.ymgmr.2014.10.003

PMCID:: PMC5121361

Abstract Article PDF–531K

Select item 48527296.

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease

Ashlee R. Stiles, Sacha Ferdinandusse, Arnaud Besse, Vivek Appadurai, Karen B. Leydiker, E.J. Cambray-Forker, Penelope E. Bonnen, Jose E. Abdenur

Mol Genet Metab. Author manuscript; available in PMC 2016 May 2.

Published in final edited form as: Mol Genet Metab. 2015 Aug; 115(4): 161–167. Published online 2015 May 15. doi: 10.1016/j.ymgme.2015.05.008

PMCID:: PMC4852729

Abstract Article PDF–755K

Select item 98734047.

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency

Brian J. Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 24.

Published in final edited form as: Am J Med Genet A. 2019 May; 179(5): 803–807. Published online 2019 Mar 7. doi: 10.1002/ajmg.a.61074

PMCID:: PMC9873404

Abstract Article PDF–305K

Select item 42220698.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard, Shamima Rahman

Orphanet J Rare Dis. 2013; 8: 188. Published online 2013 Dec 4. doi: 10.1186/1750-1172-8-188

PMCID:: PMC4222069

Abstract Article PDF–2.2M

Select item 17853159.

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

Ference J. Loupatty, Peter T. Clayton, Jos P. N. Ruiter, Rob Ofman, Lodewijk IJlst, Garry K. Brown, David R. Thorburn, Robert A. Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon J. R. Heales, Ronald J. A. Wanders

Am J Hum Genet. 2007 Jan; 80(1): 195–199. Published online 2006 Nov 30. doi: 10.1086/510725

PMCID:: PMC1785315

Abstract Article PDF–532K

Select item 837014910.

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation

Nafiye Emel Çakar, Orhan Görükmez

Ann Indian Acad Neurol. 2021 May-Jun; 24(3): 372–378. Published online 2021 Jul 14. doi: 10.4103/aian.AIAN_192_20

PMCID:: PMC8370149

Abstract Article PDF–711K

Select item 798247011.

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Junling Wang, Zhimei Liu, Manting Xu, Xiaodi Han, Changhong Ren, Xinying Yang, Chunhua Zhang, Fang Fang

Front Pharmacol. 2021; 12: 605803. Published online 2021 Mar 8. doi: 10.3389/fphar.2021.605803

Correction in:: Front Pharmacol. 2021; 12: 686933.

PMCID:: PMC7982470

Abstract Article PDF–2.6M

Select item 674342912.

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia

Estephania Candelo, Léa Cochard, Gabriela Caicedo-Herrera, Ana M. Granados, Juan F. Gomez, Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, Harry Pachajoa

Intractable Rare Dis Res. 2019 Aug; 8(3): 187–193. doi: 10.5582/irdr.2019.01014

PMCID:: PMC6743429

Abstract Article PDF–1.0M

Select item 427086713.

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

Sanne van Dongen, Ruth M. Brown, Garry K. Brown, David R. Thorburn, Avihu Boneh

JIMD Rep. 2015; 15: 13–27. Published online 2014 Apr 10. doi: 10.1007/8904_2014_293

PMCID:: PMC4270867

Abstract Article PDF–216K

Select item 486356414.

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin

Anne M. Molloy, Faith Pangilinan, James L. Mills, Barry Shane, Mary B. O’Neill, David M. McGaughey, Aneliya Velkova, Hatice Ozel Abaan, Per M. Ueland, Helene McNulty, Mary Ward, J.J. Strain, Conal Cunningham, Miriam Casey, Cheryl D. Cropp, Yoonhee Kim, Joan E. Bailey-Wilson, Alexander F. Wilson, Lawrence C. Brody

Am J Hum Genet. 2016 May 5; 98(5): 869–882. Published online 2016 Apr 28. doi: 10.1016/j.ajhg.2016.03.005

PMCID:: PMC4863564

Abstract Article PDF–1.0M

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PMC Articles for MedGen (Select 83349) (14)
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Homo sapiens chromosome 1, GRCh38 reference primary assembly
Homo sapiens chromosome 1, GRCh38 reference primary assembly
gi|568336023|gnl|ASM:GCA_000001305| CM000663.2|

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