Results 171 to 180 of about 3,221 (198)

Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China.

Clinica chimica acta; international journal of clinical chemistry, 2022
Yiming Lin, Xiaochun Zhu, Chao Zhang, Xiaoshan Yin, Haixia Miao, Zhenzhen Hu, Jian-bin Yang, Benqing Wu, Xinwen Huang   +8 more
semanticscholar   +1 more source

[Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes.Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members.
Xiaorong, Shi, Zhonglin, Ke, Aidong, Zheng, Wenhuang, Xie, Guiling, Mo   +4 more
openaire   +1 more source

An overview of real‐world data sources for oncology and considerations for research

Ca-A Cancer Journal for Clinicians, 2022
Lynne Penberthy, Donna R Rivera, Jennifer L Lund, Msph   +2 more
exaly  

Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene

Metabolic brain disease, 2020
A. Sitta, Gilian Guerreiro, Daniella de Moura Coelho, Vitoria Volfart da Rocha, B. G. dos Reis, C. Sousa, L. Vilarinho, M. Wajner, C. Vargas   +8 more
semanticscholar   +1 more source

Health insurance status and cancer stage at diagnosis and survival in the United States

Ca-A Cancer Journal for Clinicians, 2022
Jingxuan Zhao, Xuesong Han, Leticia M Nogueira   +2 more
exaly  

An overview of precision oncology basket and umbrella trials for clinicians

Ca-A Cancer Journal for Clinicians, 2020
Kristian Thorlund, Edward J Mills
exaly  

Mitochondria-targeted antioxidants and selective peroxisome proliferator-activated receptor delta (PPARδ) agonist improve bioenergetics in glutaric acidemia type 1 patient’s fibroblasts

Biochimica et Biophysica Acta
Bianca Seminotti, Kara Sampson, Mora Ghattes, Peter Wipf, J. Vockley   +4 more
semanticscholar   +1 more source

An Audit of Temperature Influence on Urine Specimens with Glutaric Acidemia Type 1 via GC-MS - Is there a Missing Link? Temat.

Clinical Laboratory
Sibtain Ahmed, Yousra Sarfaraz, Ahmed Rayyan, S. Mateen, L. Jafri   +4 more
semanticscholar   +1 more source

P.30 Case-based educational model identifies need for nutritional management guidelines of patients with glutaric acidemia type 1 after basal ganglia stroke

Molecular Genetics and Metabolism
Lm Ryan, S. Bailur, JR Basas, I. Ginevic, A. McGuinness, RH Singh   +5 more
semanticscholar   +1 more source

Cancer statistics, 2017

Ca-A Cancer Journal for Clinicians, 2017
Rebecca L Siegel, Kimberly D Miller
exaly