Results 221 to 230 of about 42,696 (258)

[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
OBJECTIVE To analyze the clinical features and genetic basis of a female neonate with muscle weakness, abnormal brain magnetic resonance imaging and elevated blood lactate. METHODS The patient was subjected to clinical and laboratory examination.
Kaihui Zhang, Hongying Li, Xiaoying Li, Yi Liu, Z. Gai   +4 more
semanticscholar   +1 more source

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet

American Journal of Medical Genetics. Part A
Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation characterized by lactic acidosis and central nervous system involvement. Knowledge of the affected metabolic pathways and clinical observations suggest
Aaron B Bowen, Otto Rapalino, Camilo Jaimes, E. Ratai, Yingyi Zhong, Elizabeth A Thiele, A. Kritzer, R. Ganetzky, Nina B. Gold, Melissa A Walker   +9 more
semanticscholar   +1 more source

Difficulties in diagnosing pyruvate dehydrogenase complex deficiency based on clinical and biochemical data: series of clinical case reports

PEDIATRIA Journal named after G N SPERANSKY
Pyruvate dehydrogenase complex deficiency (PDC) is a mitochondrial disease associated with a violation of pyruvate metabolism and leading to a decrease in ATP production. PDC is responsible for the decarboxylation of pyruvate into acetyl-CoA.
S. V. Mikhaylova, E. Zakharova, M. V. Zazhivikhina, N.A. Votyakova, M.E. Abdullina, P. Tsygankova, Y. Yurasova, E.L. Usacheva, E. Petryaykina   +8 more
semanticscholar   +1 more source

[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
OBJECTIVE To explore the genetic basis for a patient with episodic ataxia and pyramidal tract signs. METHODS The patient was subjected to high-throughput sequencing, Sanger sequencing and analysis of dynamic variant site associated with spinocerebellar
Nana Shen, Haili Wang, Yichu Shi, Deqing Geng, Sen Qun, W. Ge   +5 more
semanticscholar   +1 more source

Current status of pyruvate dehydrogenase complex deficiency

, 2014
Pyruvate dehydrogenase complex (PDHc)deficiency is a genetic disorder of mitochondrial energy metabolism.Most cases result from mutations in gene encoded PDHc.The clinical presentation of patients with PDHc deficiency is extremely variable.Diagnosis of ...
Moling Wu
semanticscholar   +1 more source

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Human Molecular Genetics, 1993
Human PDH complex deficiency is an extremely heterogeneous disease in its presentation and clinical course. In an investigation at the level of the gene into ten cases of PDH complex (E1) deficiency, we found that all had mutations in the coding sequence
K. Chun, N. Mackay, R. Petrova-Benedict, B. Robinson   +3 more
semanticscholar   +1 more source

Pyruvate Dehydrogenase Deficiency

, 2017
This is a disorder of carbohydrate metabolism, the breaking down of glucose (sugar) to provide energy for the body. In this disorder there is a deficiency of the pyruvate dehydrogenase complex which causes difficulty in converting pyruvate into acetyl ...
J. M. Pascual
semanticscholar   +1 more source

Current treatment and recent progress in gastric cancer

Ca-A Cancer Journal for Clinicians, 2021
Smita S Joshi, Brian D Badgwell
exaly  

Colorectal cancer statistics, 2020

Ca-A Cancer Journal for Clinicians, 2020
Rebecca L Siegel, Kimberly D Miller, Stacey A Fedewa   +2 more
exaly  

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