PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2021.004162021294194-198A Case of Mitochondrial Trifunctional Protein Deficiency with HADHB Variants Diagnosed Using Whole-Exome SequencingChan Kim, Dajeong Lee, Jiwon Lee, Sung Yoon Cho, Jeehun Leehttp://annchildneurol.org/upload/pdf/acn-2021-00416.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2021.00416, http://annchildneurol.org/upload/pdf/acn-2021-00416.pdf
European Journal of Pediatrics10.1007/s00431-015-2598-12015174121693-1694Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutationJosef Finsterer, Sinda Zarrouk-Majoubhttp://link.springer.com/content/pdf/10.1007/s00431-015-2598-1.pdf, http://link.springer.com/article/10.1007/s00431-015-2598-1/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00431-015-2598-1
Mitochondrion10.1016/j.mito.2019.09.004201949200-205Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiencyZhi-Rong Liu, Hai-Lin Dong, Yin Ma, Zhi-Ying Wuhttps://api.elsevier.com/content/article/PII:S1567724919300285?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1567724919300285?httpAccept=text/plain
Human Genome Variation10.1038/s41439-020-0097-z202071Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiencyMina Nakama, Hideo Sasai, Mitsuru Kubota, Yuki Hasegawa, Ryoji Fujiki, Torayuki Okuyama, Osamu Ohara, Toshiyuki Fukaohttp://www.nature.com/articles/s41439-020-0097-z.pdf, http://www.nature.com/articles/s41439-020-0097-z, http://www.nature.com/articles/s41439-020-0097-z.pdf
European Journal of Pediatrics10.1007/s00431-015-2600-y2015174121695-1695Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub “Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation”Tiina Ojalahttp://link.springer.com/content/pdf/10.1007/s00431-015-2600-y.pdf, http://link.springer.com/article/10.1007/s00431-015-2600-y/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00431-015-2600-y
Molecular Genetics and Metabolism10.1016/j.ymgme.2011.09.02520111044556-559A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescenceMariko Yagi, Tomoko Lee, Hiroyuki Awano, Masahiro Tsuji, Go Tajima, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Yasuhiro Takeshima, Masafumi Matsuohttps://api.elsevier.com/content/article/PII:S1096719211003362?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1096719211003362?httpAccept=text/plain
Molecular Genetics and Metabolism Reports10.1016/j.ymgmr.2015.10.0152015580-84Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese familyXiaona Fu, Feixia Zheng, Yao Zhang, Xinhua Bao, Shuang Wang, Yanling Yang, Hui Xionghttps://api.elsevier.com/content/article/PII:S2214426915300501?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S2214426915300501?httpAccept=text/plain
Clinical Neurology and Neurosurgery10.1016/j.clineuro.2021.1065062021202106506A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencingFatma Cakmak Celik, Mehmet Mustafa Ozlu, Serdar Ceylanerhttps://api.elsevier.com/content/article/PII:S0303846721000330?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0303846721000330?httpAccept=text/plain
Pediatrics & Neonatology10.1016/j.pedneo.2020.10.0132021622229-230A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencingJunke Xia, Zhihui Jiao, Zhenhua Zhao, Jing Wu, Xiangdong Konghttps://api.elsevier.com/content/article/PII:S1875957220301777?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1875957220301777?httpAccept=text/plain
Journal of the Neurological Sciences10.1016/j.jns.2017.08.304420173811079Comprehensive genetic testing for mitochondrial disorders using sanger sequencing, southern blotting, whole exome sequencing, and whole mitochondrial genome sequencingM. Tanaka, H. Ishiura, J. Mitsui, J. Shimizu, S. Tsujihttps://api.elsevier.com/content/article/PII:S0022510X17335414?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0022510X17335414?httpAccept=text/plain