Results 221 to 230 of about 47,907 (257)

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency

Frontiers in Pediatrics
A pyruvate dehydrogenase complex deficiency causes a reduction in adenosine triphosphate production and energy insufficiency, leading to neurological disorders.
Thi Thanh Hai Nguyen, Nguyen Ngoc Khanh, C. Vu, N. Nguyen, V. Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Duc Quan, Nguyen Thanh Hien, Tran Thi Huong Giang, Nguyen Thi Xuan, Nguyen Thien Tao, Tran Van Khoa, H. Nguyen   +13 more
semanticscholar   +1 more source

[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018
Kaihui Zhang, Hongying Li, Xiaoying Li, Yi Liu, Z. Gai   +4 more
semanticscholar   +1 more source

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Nature Medicine, 2022
Anirban Das, Daniel Morgenstern, Ailish C Coblentz   +2 more
exaly  

[Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
Nana Shen, Haili Wang, Yichu Shi, Deqing Geng, Sen Qun, W. Ge   +5 more
semanticscholar   +1 more source

Energy substrate metabolism in pyruvate dehydrogenase complex deficiency

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2014
M. H. Stenlid, F. Ahlsson, A. Forslund, U. von Döbeln, J. Gustafsson   +4 more
semanticscholar   +1 more source

Pyruvate dehydrogenase complex deficiency and absence of subunit X

Journal of Inherited Metabolic Disease, 1998
L. Meirleir, W. Lissens, C. Benelli, C. Marsac, J. B. D. Klerk, J. Scholte, O. Diggelen, W. Kleijer, S. Seneca, I. Liebaers   +9 more
semanticscholar   +1 more source

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene

European Journal of Pediatrics, 2005
M. Tulinius, N. Darín, L. Wiklund, E. Holmberg, J. Eriksson, W. Lissens, L. Meirleir, E. Holme   +7 more
semanticscholar   +1 more source

Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency

Pediatrics International, 2010
Satoshi Sato, Hiroaki Ioi, Y. Kashiwagi, H. Kawashima, T. Miyajima, E. Naito, A. Hoshika   +6 more
semanticscholar   +1 more source

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature Medicine, 2021
Masato Ogishi, Rui Yang, Caner Aytekin
exaly  

Current status of pyruvate dehydrogenase complex deficiency

, 2014
Moling Wu
semanticscholar   +1 more source