Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Tim Phetthong"'
Publikováno v:
BMC Pregnancy and Childbirth, Vol 24, Iss 1, Pp 1-6 (2024)
Abstract Background Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians. The diversity of underlying causes makes it challenging to confirm a
Externí odkaz:
https://doaj.org/article/facfbf98cfaa4f17a3d66cf9f8aae73d
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:
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:
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
Autor:
Tim Phetthong, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Arthaporn Khongkrapan, Preamrudee Poomthavorn
Publikováno v:
American Journal of Medical Genetics Part A. 182:1873-1876
Kabuki syndrome (KS) is a rare heterogeneous phenotypic genetic syndrome, characterized by hypotonia, developmental delay and/or intellectual disability with typical facial features. It is challenging to diagnose KS in newborn and young infant. We re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c1a5e40d6ed15e1be22389fbb358a6b
https://doi.org/10.1002/ajmg.a.61723
https://doi.org/10.1002/ajmg.a.61723
Autor:
Duangrurdee Wattanasirichaigoon, Naruwan Noentong, Thipwimol Tim-Aroon, Adisak Tantiworawit, Tim Phetthong, Achara Sathienkijkanchai, Arthaporn Khongkraparn, Khunton Wichajarn, Kanya Suphapeetiporn, Pimlak Charoenkwan, Chulaluck Kuptanon, Saisuda Noojarern
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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 nonneuronopathic GD; G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ba7ee097ca7e77b20255651272145e
https://doi.org/10.1186/s13023-021-02151-2
https://doi.org/10.1186/s13023-021-02151-2
Autor:
Tim, Phetthong, Arthaporn, Khongkrapan, Natini, Jinawath, Go-Hun, Seo, Duangrurdee, Wattanasirichaigoon
Publikováno v:
Genes
The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::74fac48dffd8af87bffaef7b9334edb0
https://pubmed.ncbi.nlm.nih.gov/34680978
https://pubmed.ncbi.nlm.nih.gov/34680978
Publikováno v:
HemaSphere. 3:894
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::16ff0bc22ad6d1055dfb4896794c725f
https://doi.org/10.1097/01.hs9.0000566368.48943.78
https://doi.org/10.1097/01.hs9.0000566368.48943.78