Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Nithiwat, Vatanavicharn"'
Autor:
Chupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, Tetsuro Matsuhashi, Masaru Shimura, Yohei Sugiyama, Takanori Onuki, Akira Ohtake, Kei Murayama, Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit, Phawin Kor-anantakul, Wuttichart Kamolvisit, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract MRPS23 is a nuclear gene encoding a mitochondrial ribosomal protein. A patient with a mitochondrial disorder was found to carry a variant in MRPS23. More cases are necessary to establish MRPS23 as a mitochondrial disease gene. Of 5134 exomes
Externí odkaz:
https://doaj.org/article/3ffc143198a147598f15385625c81b7d
Autor:
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pa
Externí odkaz:
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e
Publikováno v:
Child's Nervous System. 39:1317-1322
Multisuture craniosynostosis is associated with a number of syndromes and underlying gene mutations. It is rarely caused by chromosome disorders. For the management, multisuture craniosynostosis raises concerns about abnormal head shape and risks of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fed8798bebe07b9ed075123f62acbf3
https://doi.org/10.1007/s00381-022-05788-x
https://doi.org/10.1007/s00381-022-05788-x
Autor:
Somporn Liammongkolkul, Boonchai Boonyawat, Chodchanok Vijarnsorn, Thipwimol Tim‐Aroon, Pornswan Wasant, Nithiwat Vatanavicharn
Publikováno v:
Pediatrics International. 65
Primary carnitine deficiency (PCD) is screened by expanded newborn screening (NBS) using tandem mass spectrometry (MS/MS) which can detect both affected neonates and mothers. This study aims to delineate clinical, biochemical, and molecular findings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45e1474298a2cb1f32a7a0faab42571
https://doi.org/10.1111/ped.15404
https://doi.org/10.1111/ped.15404
Autor:
Rattanavalai Nitiyarom, Wanee Wisuthsarewong, Nithiwat Vatanavicharn, Rattapon Thuangtong, Atiporn Thuangtong, Chanin Limwongse, Sunisa Sawasdichai, Jane Manonukul
Publikováno v:
Siriraj Medical Journal, Vol 69, Iss 3, Pp 156-158 (2017)
We herein describe the first reported case of Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome in Thailand. A 6-year-old boy presented with a history of photophobia since 1 month of age. Then he developed widespread follicular
Externí odkaz:
https://doaj.org/article/634e67878e984bc29bb66f09bd36bc57
Autor:
Chantragan Srisomsap, Pisanu Ratanarak, Voraratt Champattanachai, Phannee Sawangareetrakul, Boonchai Boonyawat, Lukana Ngiwsara, Nithiwat Vatanavicharn, James R. Ketudat-Cairns, Jisnuson Svasti, Somporn Liammongkolkul, Pornswan Wasant
Publikováno v:
Molecular Biology Reports. 48:2063-2070
Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a02ba14e723a47f8e2e2767eae2068e
https://doi.org/10.1007/s11033-021-06163-w
https://doi.org/10.1007/s11033-021-06163-w
Autor:
Duangrurdee Wattanasirichaigoon, Natini Jinawath, Tassanee Lerksuthirat, Nithiwat Vatanavicharn, Nusara Satproedprai, Arthaporn Kongkrapan, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Bhoom Suktitipat, Thipwimol Tim-Aroon, Surakameth Mahasirimongkol, Kanya Moolsuwan, Jakris Eu-ahsunthornwattana, Khunton Wichajarn, Supranee Thongpradit, Kullasate Sakpichaisakul
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-9 (2021)
BMC Pediatrics
BMC Pediatrics
Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8d103f1855baeb62aecf039e196f7d
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e
https://doaj.org/article/5793a6bb9459425ea999df2f70d8699e
Autor:
Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134782 (2015)
Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can
Externí odkaz:
https://doaj.org/article/8c583c31f61c4cd4ab0393c1633c3b5c
Autor:
Nithiwat Vatanavicharn, Mark H. Moore, Peter J. Anderson, Verayuth Praphanphoj, Sarut Chaisrisawadisuk
Publikováno v:
Journal of Neurosurgery: Case Lessons. 1
BACKGROUNDSquamosal sutures are minor sutures of the human skull. Early isolated fusion of the sutures (squamosal synostosis) is rarely found.OBSERVATIONSThe authors report a case of a girl who presented with an abnormal head shape and bilateral squa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef0c4d6511c8fea8e808b00febd4f410
https://doi.org/10.3171/case20102
https://doi.org/10.3171/case20102
Autor:
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-Ahsunthornwattana, Supranee Thongpradit, Moolsuwan, Kanya, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Wattanasirichaigoon, Duangrurdee
Additional file 1: Supplemental Table S1. Primers sequences and conditions for HEXB mutation analysis. Supplemental Table S2. Scores and prediction of pathogenicity for missense variants identified using in silico analysis tools.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1c0eee4f6212e50a94453a31e8b749
