Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Boonchai Boonyawat"'
Autor:
Panisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Parith Wongkittichote, Khunton Wichajarn, Chulaluck Kuptanon, Boonchai Boonyawat, Kanya Suphapeetiporn, Karn Wejaphikul, GoHun Seo, Duangrurdee Wattanasirichaigoon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by variants in any of the following genes: BCKDHA, BCKDHB, and DBT gene. Previous reports have highlighted a variety of common causing genes
Externí odkaz:
https://doaj.org/article/201986f398ee4ebdb3b61e349e5f9a1a
Publikováno v:
Case Reports in Neurological Medicine, Vol 2024 (2024)
Rhabdomyolysis, an emergency medical condition linked to muscle necrosis and intracellular substances released into the bloodstream, significantly endangers military personnel in heat-stress conditions. Rhabdomyolysis can also be an initial presentat
Externí odkaz:
https://doaj.org/article/f9f329f3710a467db5b3b5d978609fbb
Publikováno v:
Anemia, Vol 2021 (2021)
Background. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable. Objective. This study aimed to charac
Externí odkaz:
https://doaj.org/article/d2286921f6a14d66802adfe0b03bebd1
Publikováno v:
Case Reports in Neurological Medicine, Vol 2019 (2019)
Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic ma
Externí odkaz:
https://doaj.org/article/e4b94e50e5d54d699540cd4d2511d422
Publikováno v:
Case Reports in Pediatrics, Vol 2018 (2018)
Vitamin K deficiency bleeding (VKDB) is a life-threatening condition and can be found in children as early as neonatal period with early onset intracranial hemorrhage (ICH). Here, we reported a 1-year-old boy who initially presented with intracranial
Externí odkaz:
https://doaj.org/article/57f0548538374ff7bbdfb5ee9208c1cc
Publikováno v:
World Journal of Clinical Pediatrics. 11:429-437
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3cad94a4863da97ae1c912d2332cf97
https://doi.org/10.5409/wjcp.v11.i5.429
https://doi.org/10.5409/wjcp.v11.i5.429
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:
Chalinee Monsereenusorn, Apichat Photia, Varissara Kaewchaivijit, Boonchai Boonyawat, Punyanuch Jindatanmanusan, Piya Rujkijyanont, Nawachai Lertvivatpong
Publikováno v:
The Application of Clinical Genetics
Boonchai Boonyawat,1 Chalinee Monsereenusorn,2 Apichat Photia,2 Nawachai Lertvivatpong,2 Varissara Kaewchaivijit,3 Punyanuch Jindatanmanusan,2 Piya Rujkijyanont2 1Division of Medical Genetics, Department of Pediatrics, Phramongkutklao College of Medi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b617241fa1e702db64de5e7ff4a94a
http://europepmc.org/articles/PMC8326781
http://europepmc.org/articles/PMC8326781
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
Publikováno v:
Anemia
Anemia, Vol 2021 (2021)
Anemia, Vol 2021 (2021)
Background. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable. Objective. This study aimed to charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b494318294a53874e61708d645c92dc
https://doi.org/10.1155/2021/6680925
https://doi.org/10.1155/2021/6680925