Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.

Literature DB >> 23520115

Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.

Yi-Chen Chen, Yin-Hsiu Chien, Pin-Wen Chen, Nelson Leung-Sang Tang, Pao-Chin Chiu, Wuh-Liang Hwu, Ni-Chung Lee.

Abstract

Entities: Chemical Disease Mutation

Mesh：

Substances：

Year: 2013 PMID： 23520115 DOI： 10.1002/humu.22286

Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878

Keyword Cloud
Cited

× No keyword cloud information.

7 in total

1. Functional and molecular studies in primary carnitine deficiency.

Authors: Marta Frigeni; Bijina Balakrishnan; Xue Yin; Fernanda R O Calderon; Rong Mao; Marzia Pasquali; Nicola Longo
Journal: Hum Mutat Date: 2017-09-14 Impact factor: 4.878

2. Fatty Acid oxidation disorders in a chinese population in taiwan.

Authors: Yin-Hsiu Chien; Ni-Chung Lee; Mei-Chyn Chao; Li-Chu Chen; Li-Hsin Chen; Chun-Ching Chien; Hui-Chen Ho; Jeng-Hung Suen; Wuh-Liang Hwu
Journal: JIMD Rep Date: 2013-05-23

3. Molecular investigation in Chinese patients with primary carnitine deficiency.

Authors: Yanghui Zhang; Haoxian Li; Jing Liu; Huiming Yan; Qin Liu; Xianda Wei; Hui Xi; Zhengjun Jia; Lingqian Wu; Hua Wang
Journal: Mol Genet Genomic Med Date: 2019-07-30 Impact factor: 2.183

4. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Authors: Ting Wang; Jun Ma; Qin Zhang; Ang Gao; Qi Wang; Hong Li; Jingjing Xiang; Benjing Wang
Journal: Front Genet Date: 2019-10-29 Impact factor: 4.599

Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.

1. Functional and molecular studies in primary carnitine deficiency.

2. Fatty Acid oxidation disorders in a chinese population in taiwan.

3. Molecular investigation in Chinese patients with primary carnitine deficiency.

4. Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

5. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.

Review 6. Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.

Review 7. The Nutraceutical Value of Carnitine and Its Use in Dietary Supplements.