Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Duangrurdee, Wattanasirichaigoon"'
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
Autor:
Nutta Nintao, Jittima Manonai, Rujira Wattanayingcharoenchai, Sommart Bumrungphuet, Wirada Hansahiranwadee, Wirada Dulyaphat, Werapath Somchit, Duangrurdee Wattanasirichaigoon, Maneerat Prakobpanich, Chayada Tangshewinsirikul
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background In developing countries, pregnant women have insufficient knowledge about cell-free DNA screening. Reports from developed countries have found that various tools in prenatal genetic counseling can improve the knowledge of pregnant
Externí odkaz:
https://doaj.org/article/fbbf03967b954c1f9a5ffd8b9e39be04
Autor:
Kitsada Kangboonruang, Tanapat Pornsukjantra, Pirut Tong-Ngam, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas, Kanit Bhukhai, Alisa Tubsuwan
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103229- (2023)
Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology rem
Externí odkaz:
https://doaj.org/article/7d6440b83bd94cfe949e746889387da2
Autor:
Rapeepat Thewamit, Chaiyos Khongkhatithum, Lunliya Thampratankul, Wuttichart Kamolvisit, Arthaporn Khongkrapan, Duangrurdee Wattanasirichaigoon
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Nonketotic hyperglycinemia (NKH) is in most cases a fatal inborn error of metabolism which usually presents during the neonatal period as encephalopathy and refractory seizures. The reported congenital anomalies associated with NKH included corpus ca
Externí odkaz:
https://doaj.org/article/65bd67ab91324778ab5e91fc816860d5
Autor:
Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Publikováno v:
Platelets, Vol 33, Iss 5, Pp 792-796 (2022)
Wiskott-Aldrich syndrome (WAS)/X-linked thrombocytopenia (XLT) is a rare X-linked disease characterized by thrombocytopenia, eczema, and recurrent infection. In addition, WAS/XLT increases incidence of autoimmune diseases and malignancies. We reporte
Externí odkaz:
https://doaj.org/article/e332b4310dca485ca623f0ea5e408804
Autor:
Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation We describe a patient who first presen
Externí odkaz:
https://doaj.org/article/3e13c95522e149939e0858a6abfd430b
Autor:
Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong, Duangrurdee Wattanasirichaigoon
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopat
Externí odkaz:
https://doaj.org/article/1560980cf85f4e098fd4ce8722c87732
Autor:
Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)
Externí odkaz:
https://doaj.org/article/f614111b9a2c46cea7936f95c35a2c05
Autor:
Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 2, p 25 (2023)
Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data
Externí odkaz:
https://doaj.org/article/b72ea4f452544257a021962240e68c87
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