PMC Articles for MedGen (Select 1684872) - PMC

Select item 114028421.

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort

Sheng-Nan Wu, Hui-Shu E, Yue Yu, Shi-Ying Ling, Li-Li Liang, Wen-Juan Qiu, Hui-Wen Zhang, Rui-Xue Shuai, Hai-Yan Wei, Chi-Ju Yang, Peng Xu, Xi-Gui Chen, Hui Zou, Ji-Zhen Feng, Ting-Ting Niu, Hai-Li Hu, Kai-Chuang Zhang, De-Yun Lu, Zhu-Wen Gong, Xia Zhan, Wen-Jun Ji, Xue-Fan Gu, Yong-Xing Chen, Lian-Shu Han

World J Pediatr. 2024; 20(8): 848–858. Published online 2023 Dec 9. doi: 10.1007/s12519-023-00770-2

PMCID:: PMC11402842

Abstract Article PDF–723K

Select item 80620622.

Differences in metabolic profiles between the Burmese, the Maine coon and the Birman cat—Three breeds with varying risk for diabetes mellitus

Malin Öhlund, Elisabeth Müllner, Ali Moazzami, Ulrika Hermansson, Ann Pettersson, Fredrick Anderson, Jens Häggström, Helene Hansson-Hamlin, Bodil S. Holst

PLoS One. 2021; 16(4): e0249322. Published online 2021 Apr 22. doi: 10.1371/journal.pone.0249322

PMCID:: PMC8062062

Abstract Article PDF–761K

Select item 77920443.

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han

Orphanet J Rare Dis. 2021; 16: 22. Published online 2021 Jan 7. doi: 10.1186/s13023-020-01632-0

PMCID:: PMC7792044

Abstract Article PDF–859K

Select item 54671144.

Changes in Hepatic TRβ Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model

Kenji Ohba, Rohit Anthony Sinha, Brijesh Kumar Singh, Liliana Felicia Iannucci, Jin Zhou, Jean-Paul Kovalik, Xiao-Hui Liao, Samuel Refetoff, Judy Chia Ghee Sng, Melvin Khee-Shing Leow, Paul Michael Yen

Thyroid. 2017 Jun 1; 27(6): 852–860. Published online 2017 Jun 1. doi: 10.1089/thy.2016.0456

PMCID:: PMC5467114

Abstract Article PDF–525K

Select item 50063895.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin

Sandra C. Van Calcar, Mei W. Baker, Phillip Williams, Susan A. Jones, Blia Xiong, Mai Choua Thao, Sheng Lee, Mai Khou Yang, Greg M. Rice, William Rhead, Jerry Vockley, Gary Hoffman, Maureen S. Durkin

Mol Genet Metab. Author manuscript; available in PMC 2016 Aug 31.

Published in final edited form as: Mol Genet Metab. 2013 Sep-Oct; 110(1-2): 111–115. Published online 2013 Apr 15. doi: 10.1016/j.ymgme.2013.03.021

PMCID:: PMC5006389

Abstract Article PDF–103K

Select item 31090456.

Activation of AMP-Activated Protein Kinase Prevents Lipotoxicity in Retinal Pericytes

José M. Cacicedo, Sunun Benjachareonwong, Eva Chou, Norito Yagihashi, Neil B. Ruderman, Yasuo Ido

Invest Ophthalmol Vis Sci. 2011 May; 52(6): 3630–3639. Published online 2011 May 26. doi: 10.1167/iovs.10-5784

PMCID:: PMC3109045

Abstract Article PDF–2.2M

Select item 27556927.

Carnitine Insufficiency Caused by Aging and Overnutrition Compromises Mitochondrial Performance and Metabolic Control

Robert C. Noland, Timothy R. Koves, Sarah E. Seiler, Helen Lum, Robert M. Lust, Olga Ilkayeva, Robert D. Stevens, Fausto G. Hegardt, Deborah M. Muoio

J Biol Chem. 2009 Aug 21; 284(34): 22840–22852. Published online 2009 Jun 24. doi: 10.1074/jbc.M109.032888

PMCID:: PMC2755692

Abstract Article PDF–2.5M

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