CrossRef Text and Data Mining
Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining.
A Case of Mitochondrial Trifunctional Protein Deficiency with HADHB Variants Diagnosed Using Whole-Exome Sequencing
Chan Kim, Dajeong Lee, Jiwon Lee, Sung Yoon Cho, Jeehun Lee
Ann Child Neurol. 2021;29(4):194-198.   Published online September 15, 2021
DOI: https://doi.org/10.26815/acn.2021.00416

Excel Download

A Case of Mitochondrial Trifunctional Protein Deficiency with HADHB Variants Diagnosed Using Whole-Exome Sequencing
Annals of Child Neurology. 2021;29(4):194-198   Crossref logo
Link1 Link2 Link3

Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation
European Journal of Pediatrics. 2015;174(12):1693-1694   Crossref logo
Link1 Link2 Link3

Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency
Mitochondrion. 2019;49:200-205   Crossref logo
Link1 Link2

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
Human Genome Variation. 2020;7(1):   Crossref logo
Link1 Link2 Link3

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
Molecular Genetics and Metabolism. 2011;104(4):556-559   Crossref logo
Link1 Link2

Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub “Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation”
European Journal of Pediatrics. 2015;174(12):1695-1695   Crossref logo
Link1 Link2 Link3

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family
Molecular Genetics and Metabolism Reports. 2015;5:80-84   Crossref logo
Link1 Link2

A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing
Clinical Neurology and Neurosurgery. 2021;202:106506   Crossref logo
Link1 Link2

A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing
Pediatrics & Neonatology. 2021;62(2):229-230   Crossref logo
Link1 Link2

Comprehensive genetic testing for mitochondrial disorders using sanger sequencing, southern blotting, whole exome sequencing, and whole mitochondrial genome sequencing
Journal of the Neurological Sciences. 2017;381:1079   Crossref logo
Link1 Link2