Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Mongkol Chanvanichtrakool"'
Autor:
Pantaree Laosuebsakulthai, Surachai Likasitwattanakul, Theerapong Pho-iam, Wanna Thongnoppakhun, Mongkol Chanvanichtrakool
Publikováno v:
Journal of Health Science and Medical Research (JHSMR), Vol 40, Iss 4, Pp 419-424 (2022)
Objective: To examine the frequency of the proline-rich transmembrane protein-2 (PRRT2) gene mutation in Thai patients with paroxysmal kinesigenic dyskinesia (PKD). Material and Methods: A retrospective study of children aged 0-18 years with a diagno
Externí odkaz:
https://doaj.org/article/4a0b6f75c3a44e8ea222586e250d71ed
Publikováno v:
Journal of Health Science and Medical Research (JHSMR), Vol 40, Iss 3, Pp 301-308 (2022)
Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis. Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger sequ
Externí odkaz:
https://doaj.org/article/f801afb29cd746a5a283456938fd1f6b
Autor:
Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise aw
Externí odkaz:
https://doaj.org/article/162759dcdc5c4ab59d86337d45da445b
Autor:
Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, Ponghatai Boonsimma, Kanjana Prangphan, Mongkol Chanvanichtrakool
Publikováno v:
Pediatric Neurology. 136:50-55
Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative disorders that are characterized by abnormal lysosomal storage. The NCL disorders are, collect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf2a06afaf9f96a7efd3a69c1797b85
https://doi.org/10.1016/j.pediatrneurol.2022.08.003
https://doi.org/10.1016/j.pediatrneurol.2022.08.003
Autor:
Pattara Wiromrat, Prasit Phowthongkum, Vorasuk Shotelersuk, Wanna Chetruengchai, Chureerat Phokaew, Duangrurdee Wattanasirichaigoon, Chupong Ittiwut, Kitiwan Rojnueangnit, Mongkol Chanvanichtrakool, Ponghatai Boonsimma, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Chutima Phuaksaman, Adjima Assawapitaksakul, Chalurmpon Srichomthong, Wuttichart Kamolvisit, Chulaluck Kuptanon
Publikováno v:
Clinical Genetics. 100:100-105
The use of rapid DNA sequencing technology in severely ill children in developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome of Thai children and adults with unknown et
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd22f8e28bb96722dfc07469b29e8610
https://doi.org/10.1111/cge.13963
https://doi.org/10.1111/cge.13963
Autor:
Wanna Thongnoppakhun, Mongkol Chanvanichtrakool, Pantaree Laosuebsakulthai, Surachai Likasitwattanakul, Theerapong Pho-iam
Publikováno v:
Journal of Health Science and Medical Research.
Objective: To examine the frequency of the proline-rich transmembrane protein-2 (PRRT2) gene mutation in Thai patients with paroxysmal kinesigenic dyskinesia (PKD). Material and Methods: A retrospective study of children aged 0-18 years with a diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a4efff3959180d52b85fda0d83f890c
https://doi.org/10.31584/jhsmr.2021853
https://doi.org/10.31584/jhsmr.2021853
Publikováno v:
Journal of Health Science and Medical Research.
Objective: To identify the common causal gene mutations in Thai children with the Dravet (DS) phenotype, using single gene analysis.Material and Methods: The study was carried out on 20 DS patients at Siriraj Hospital, Bangkok, Thailand. Sanger seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec781e460e3b05150299d21684372d4
https://doi.org/10.31584/jhsmr.2021838
https://doi.org/10.31584/jhsmr.2021838
Autor:
Prakarn Tovichien, Krittin Rattananont, Narathorn Kulthamrongsri, Mongkol Chanvanichtrakool, Buranee Yangthara
Publikováno v:
BMC pediatrics. 22(1)
Background Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by mutations in the Paired-Like Homeobox 2B (PHOX2B) gene. It causes alveolar hypoventilation and autonomic dysregulation. This report aimed to raise awareness o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8612d3043661993f0e5eb27bc66dae77
https://pubmed.ncbi.nlm.nih.gov/35209861
https://pubmed.ncbi.nlm.nih.gov/35209861
Autor:
Kitiwan Rojnueangnit, Chalurmpon Srichomthong, Aayalida Buasong, Kanya Suphapeetiporn, Rungnapa Ittiwut, Vorasuk Shotelersuk, Wanna Chetruengchai, Pattara Wiromrat, Chupong Ittiwut, Adjima Assawapitaksakul, Mongkol Chanvanichtrakool, Duangrurdee Wattanasirichaigoon, Prasit Phowthongkum, Chulaluck Kuptanon, Wuttichart Kamolvisit, Ponghatai Boonsimma, Chureerat Phokaew, Chutima Phuaksaman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca44c37112de3b765e7e9afbe8b9e2f3
https://doi.org/10.1111/cge.13963/v2/response1
https://doi.org/10.1111/cge.13963/v2/response1
