PMC Articles for MedGen (Select 463302) - PMC

Select item 48877781.

3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

XIAOSHENG HAO, JIANGTAO WANG, SONGYAN LIU, YINBO CHEN, YAN ZHANG, YUNPENG HAO

Exp Ther Med. 2016 Jun; 11(6): 2573–2576. Published online 2016 Apr 11. doi: 10.3892/etm.2016.3243

PMCID:: PMC4887778

Select item 29036942.

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Beatriz Puisac, María Arnedo, Cesar H. Casale, María Pilar Ribate, Tomás Castiella, Feliciano J. Ramos, Antonia Ribes, Celia Pérez-Cerdá, Nuria Casals, Fausto G. Hegardt, Juan Pié

J Inherit Metab Dis. 2010 Aug; 33(4): 405–410. Published online 2010 Jun 8. doi: 10.1007/s10545-010-9097-3

PMCID:: PMC2903694

Article PDF–140K

Select item 61176123.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M. Davidson, Jennifer E. Kyle, Megan E. Grove, Dianna G. Fisk, Jennefer N. Kohler, Matthew Holmes, Annika M. Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M. Zink, Young-Mo Kim, Heino M. Heyman, Kelly G. Stratton, Bobbie-Jo M. Webb-Robertson, Undiagnosed Diseases Network, Michael Snyder, Jason D. Merker, Stephen B. Montgomery, Paul G. Fisher, René G. Feichtinger, Johannes A. Mayr, Julie Hall, Ines A. Barbosa, Michael A. Simpson, Charu Deshpande, Katrina M. Waters, David M. Koeller, Thomas O. Metz, Andrew A. Morris, Susan Schelley, Tina Cowan, Marisa W. Friederich, Robert McFarland, Johan L.K. Van Hove, Gregory M. Enns, Shinya Yamamoto, Euan A. Ashley, Michael F. Wangler, Robert W. Taylor, Hugo J. Bellen, Jonathan A. Bernstein, Matthew T. Wheeler

Am J Hum Genet. 2018 Mar 1; 102(3): 494–504. Published online 2018 Feb 22. doi: 10.1016/j.ajhg.2018.01.020

PMCID:: PMC6117612

Article PDF–2.0M

Select item 17648774.

Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

Moeenaldeen Al-Sayed, Faiqa Imtiaz, Osama A Alsmadi, Mohammed S Rashed, Brian F Meyer

BMC Med Genet. 2006; 7: 86. Published online 2006 Dec 16. doi: 10.1186/1471-2350-7-86

PMCID:: PMC1764877

Article PDF–555K

Select item 103970975.

浙江省新生儿有机酸尿症筛查及随访分析

Fang HONG, Xinwen HUANG, Yu ZHANG, Jianbin YANG, Fan TONG, Huaqing MAO, Xiaolei HUANG, Xuelian ZHOU, Rulai YANG, Zhengyan ZHAO

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 240–247. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.03

PMCID:: PMC10397097

Article PDF–751K

Select item 69410316.

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones

María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Rebeca Antoñanzas-Peréz, Paulino Gómez-Puertas, Gloria Bueno-Lozano, Beatriz Puisac, Juan Pié

Int J Mol Sci. 2019 Dec; 20(24): 6124. Published online 2019 Dec 4. doi: 10.3390/ijms20246124

PMCID:: PMC6941031

Article PDF–1.4M

Select item 36855587.

A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency

Francesca Santarelli, Michela Cassanello, Ausilia Enea, Francesca Poma, Valentina D'Onofrio, Giovanna Guala, Giangiacomo Garrone, Paola Puccinelli, Ubaldo Caruso, Francesco Porta, Marco Spada

Ital J Pediatr. 2013; 39: 33. Published online 2013 May 24. doi: 10.1186/1824-7288-39-33

PMCID:: PMC3685558

Article PDF–553K

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