Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Thipwimol Tim‑Aroon"'
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:
Keatdamrong Janpipatkul, Nareerat Sutjarit, Amornrat Tangprasittipap, Tai Chaiamarit, Pawarit Innachai, Kanoknetr Suksen, Tanida Chokpanuwat, Thipwimol Tim-Aroon, Usanarat Anurathapan, Natee Jearawiriyapaisarn, Alisa Tubsuwan, Supareak Bowornpinyo, Nithi Asavapanumas, Arthit Chairoungdua, Kanit Bhukhai, Suradej Hongeng
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Gaucher disease (GD) is one of the most common types of lysosomal storage diseases (LSDs) caused by pathogenic variants of lysosomal β-glucocerebrosidase gene (GBA1), resulting in the impairment of Glucocerebrosidase (GCase) enzy
Externí odkaz:
https://doaj.org/article/59a850ee25e242c784be1f2144fdcbd3
Autor:
Tanapat Pornsukjantra, Nongluk Saikachain, Nareerat Sutjarit, Arthaporn Khongkrapan, Alisa Tubsuwan, Kanit Bhukhai, Thipwimol Tim-Aroon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Gaucher disease (GD) is a lysosomal storage disorder caused by a mutation in the GBA1 gene, responsible for encoding the enzyme Glucocerebrosidase (GCase). Although neuronal death and neuroinflammation have been observed in the brains of ind
Externí odkaz:
https://doaj.org/article/0f6e96ed824b4ccca62b25c09c125f40
Autor:
Thitima Ngoenmak, Julintorn Somran, Montana Foonoi, Klaita Srisingh, Nun Singpan, Thipwimol Tim-Aroon
Publikováno v:
Global Pediatrics, Vol 7, Iss , Pp 100096- (2024)
We report a 7-month-old Thai girl diagnosed with a Niemann-Pick Disease (NPD) Type A. Hepatosplenomegaly was initially noticed at the age of 2 months. She developed progressive neurodevelopmental delay at 5 months. Other typical manifestations includ
Externí odkaz:
https://doaj.org/article/379e3ab0988549528ae0016cb7b20f85
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:
Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen,, Preamrudee Poomthavorn
Publikováno v:
JCRPE, Vol 14, Iss 4, Pp 485-489 (2022)
Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidis
Externí odkaz:
https://doaj.org/article/146d45e5ce5643909def03d62e4bc5ed
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
Publikováno v:
Journal of Health Science and Medical Research (JHSMR), Vol 39, Iss 6, Pp 517-522 (2021)
Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile of high levels of total cholesterol (TC), triglycerides, and low-density lipop
Externí odkaz:
https://doaj.org/article/9c712b813e3242dc967bdc1e9e84d3fd
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