PMC Articles for MedGen (Select 65086) - PMC

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 83753347.

“It’s Just Always Eating”: The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency

Hilary Piercy, Charlotte Nutting, Sufin Yap

Glob Qual Nurs Res. 2021 Jan-Dec; 8: 23333936211032203. Published online 2021 Aug 16. doi: 10.1177/23333936211032203

PMCID:: PMC8375334

Abstract Article PDF–370K

Select item 81912648.

Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report

Ito Hidekazu, Mizuno Shoji

Saudi J Anaesth. 2021 Apr-Jun; 15(2): 213–215. Published online 2021 Apr 1. doi: 10.4103/sja.sja_1041_20

PMCID:: PMC8191264

Abstract Article PDF–718K

Select item 80250819.

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han

Front Genet. 2021; 12: 577046. Published online 2021 Mar 23. doi: 10.3389/fgene.2021.577046

PMCID:: PMC8025081

Abstract Article PDF–620K

Select item 799330010.

Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge

Donald Afreh-Mensah, Juliana Chizo Agwu

BMJ Case Rep. 2021; 14(3): e239325. Published online 2021 Mar 24. doi: 10.1136/bcr-2020-239325

PMCID:: PMC7993300

Abstract Article PDF–344K

Select item 765316311.

Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency

Yasuko Mikami-Saito, Masamitsu Maekawa, Yoichi Wada, Tomoe Kanno, Ai Kurihara, Yuko Sato, Toshio Yamamoto, Natsuko Arai-Ichinoi, Shigeo Kure

Mol Genet Metab Rep. 2020 Dec; 25: 100674. Published online 2020 Nov 5. doi: 10.1016/j.ymgmr.2020.100674

PMCID:: PMC7653163

Abstract Article PDF–1.4M

Select item 739017812.

中链酰基辅酶A脱氢酶缺乏症新生儿筛查及随访研究

童凡, 蒋萍萍, 杨茹莱, 黄晓磊, 周雪莲, 洪芳, 钱古柃, 赵正言, 舒强

Zhongguo Dang Dai Er Ke Za Zhi. 2019 Jan 25; 21(1): 52–57. Chinese. doi: 10.7499/j.issn.1008-8830.2019.01.010

PMCID:: PMC7390178

Abstract Article PDF–1.5M

Select item 448490913.

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening

Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Georg F. Hoffmann, Claus R. Bartram, Katrin Hinderhofer, Peter Burgard, Martin Lindner

JIMD Rep. 2015; 23: 101–112. Published online 2015 May 5. doi: 10.1007/8904_2015_439

PMCID:: PMC4484909

Abstract Article PDF–353K

Select item 474101514.

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter, on behalf of the Canadian Inherited Metabolic Diseases Research Network

Orphanet J Rare Dis. 2016; 11: 12. Published online 2016 Feb 3. doi: 10.1186/s13023-016-0391-5

PMCID:: PMC4741015

Abstract Article PDF–617K

Select item 482367515.

Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage

Willem Staels, James D’Haese, Els Sercu, Linda De Meirleir, Johan Colpaert, Luc Cornette

Matern Health Neonatol Perinatol. 2015; 1: 8. Published online 2015 Mar 18. doi: 10.1186/s40748-015-0010-9

PMCID:: PMC4823675

Abstract Article PDF–693K

Select item 643102616.

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

Orphanet J Rare Dis. 2019; 14: 70. Published online 2019 Mar 22. doi: 10.1186/s13023-019-1001-0

PMCID:: PMC6431026

Abstract Article PDF–959K

Select item 609183117.

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening

Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret

J Int Med Res. 2018 Apr; 46(4): 1339–1348. Published online 2018 Jan 19. doi: 10.1177/0300060517734123

PMCID:: PMC6091831

Abstract Article PDF–225K

Select item 107331918.

Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

W Ruitenbeek, P J Poels, D M Turnbull, B Garavaglia, R A Chalmers, R W Taylor, F J Gabreëls

J Neurol Neurosurg Psychiatry. 1995 Feb; 58(2): 209–214. doi: 10.1136/jnnp.58.2.209

PMCID:: PMC1073319

Summary Page Browse PDF–1.2M

Select item 311103419.

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

Hye In Woo, Hyung-Doo Park, Yong-Wha Lee, Dong Hwan Lee, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim

Korean J Lab Med. 2011 Jan; 31(1): 54–60. Published online 2011 Jan 10. doi: 10.3343/kjlm.2011.31.1.54

PMCID:: PMC3111034

Abstract Article PDF–966K

Select item 324364920.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

Juliet Oerton, Javaria M Khalid, Guy Besley, R Neil Dalton, Melanie Downing, Anne Green, Mick Henderson, Steve Krywawych, James Leonard, Brage S Andresen, Carol Dezateux

J Med Screen. 2011 Dec; 18(4): 173–181. doi: 10.1258/jms.2011.011086

PMCID:: PMC3243649

Abstract Article PDF–499K

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PMC Articles for MedGen (Select 65086) (161)
PMC
Mus musculus protein tyrosine phosphatase domain containing 1 (Ptpdc1), transcri...
Mus musculus protein tyrosine phosphatase domain containing 1 (Ptpdc1), transcript variant 1, mRNA
gi|684625053|ref|NM_001301781.1|

Nucleotide
Homo sapiens A kinase (PRKA) anchor protein 6, mRNA (cDNA clone IMAGE:40148750),...
Homo sapiens A kinase (PRKA) anchor protein 6, mRNA (cDNA clone IMAGE:40148750), complete cds
gi|159154960|gb|BC154413.1|

Nucleotide
Gm53520 predicted gene, 53520 [Mus musculus]
Gm53520 predicted gene, 53520 [Mus musculus]
Gene ID:118567697

Gene

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