Zobrazeno 1 - 10 of 70 pro vyhledávání: '"Chung U. Lee"'
1
Akademický článek
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers
Autor: Annie D. Niehaus MD, Holly Cooper MD, Chung U. Lee MD
Publikováno v: Journal of Investigative Medicine High Impact Case Reports, Vol 12 (2024)
Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typical
Externí odkaz: https://doaj.org/article/07c42d3cf40e43f3a5f51c066027875a
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2
Akademický článek
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2
Autor: J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100765- (2021)
The phenotype of individuals with glycogen storage disease (GSD) IX appears to be highly variable, even within subtypes. Features include short stature, fasting hypoglycemia with ketosis, hepatomegaly, and transaminitis. GSD IXɑ2 is caused by hemizy
Externí odkaz: https://doaj.org/article/086ffee666ff41be99e530bde744348d
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4
Akademický článek
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.
Autor: Niehaus, Annie D., Cooper, Holly, Lee, Chung U.
Publikováno v: Journal of Investigative Medicine High Impact Case Reports; 8/14/2024, p1-6, 6p
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5
Akademický článek
Genetic polymorphisms and phylogenetic characteristics of Tibeto-Burman-speaking Lahu population from southwest China based on 41 Y-STR loci.
Autor: Xu, Chongchong1 (AUTHOR), Wei, Wei1 (AUTHOR), Zuo, Mingxin1 (AUTHOR), Zuo, Wu2 (AUTHOR), Li, Kuan1 (AUTHOR), Lian, Xinqing1 (AUTHOR), Wang, Shixu1 (AUTHOR), Zhou, Xuemei1 (AUTHOR), Zhang, Xiufeng1,3 (AUTHOR) xiuzheng1203@163.com, Zhong, Shurong1,3 (AUTHOR) zhongshurong@hotmail.com
Publikováno v: Annals of Human Biology. Feb2023, Vol. 50 Issue 1, p76-81. 6p.
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6
Akademický článek
The 50th anniversary of May 4, 1970 is associated with elevations of distress but no increase in mental health symptoms.
Autor: Rabinowitz, Emily P.1, Sayer, MacKenzie A.1, Samii, Marielle R.1, Straub, Elizabeth L.1, Kutash, Lindsay A.1, Delahanty, Douglas L.1,2 ddelahan@kent.edu
Publikováno v: Stress & Health: Journal of the International Society for the Investigation of Stress. Aug2022, Vol. 38 Issue 3, p556-567. 12p.
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8
Akademický článek
Population genetic data for 12 X-STR loci in the Central Saudi region using investigator Argus X-12 amplification kit.
Autor: Messaoudi, Safia A.1 (AUTHOR), Babu, Saranya R.1 (AUTHOR), Alsaleh, Abrar B.1 (AUTHOR), Albujja, Mohammed1 (AUTHOR), Al-Snan, Noora R.2 (AUTHOR), Chaudhary, Abdul Rauf1 (AUTHOR), Kassab, Ahmed Ch.1 (AUTHOR), Assidi, Mourad3 (AUTHOR)
Publikováno v: Annals of Human Biology. Jun2021, Vol. 48 Issue 4, p321-326. 6p.
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9
Akademický článek
Genetic structure and forensic characterisation of 36 Y-chromosomal STR loci in Hmong-Mien-speaking Miao population.
Autor: Tang, Jing1 (AUTHOR), Yang, Meiqing2 (AUTHOR), Wang, Xiaojuan2 (AUTHOR), Wang, Qian1 (AUTHOR), Wang, Qiyan2 (AUTHOR), Zhang, Hongling2 (AUTHOR), Qian, Enfang2 (AUTHOR), Zhang, Han2 (AUTHOR), Ji, Jingyan2 (AUTHOR), Ren, Zheng2 (AUTHOR), Wu, Yan1 (AUTHOR), Huang, Jiang2 (AUTHOR)
Publikováno v: Annals of Human Biology. Sep2020, Vol. 47 Issue 6, p541-548. 8p.
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