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Page 1
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Lakkhana P, Tim-Aroon T, Khongkraparn A, Noojarern S, Wongkittichote P, Wichajarn K, Kuptanon C, Boonyawat B, Suphapeetiporn K, Wejaphikul K, Seo G, Wattanasirichaigoon D. Lakkhana P, et al. Among authors: wongkittichote p. Orphanet J Rare Dis. 2024 Oct 25;19(1):396. doi: 10.1186/s13023-024-03411-7. Orphanet J Rare Dis. 2024. PMID: 39456016 Free PMC article.
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC. Pham V, et al. Among authors: wongkittichote p. Mol Ther. 2024 Nov 6;32(11):3829-3846. doi: 10.1016/j.ymthe.2024.08.015. Epub 2024 Aug 22. Mol Ther. 2024. PMID: 39169621
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC. Pham V, et al. Among authors: wongkittichote p. Mol Genet Metab. 2024 Feb;141(2):108116. doi: 10.1016/j.ymgme.2023.108116. Epub 2023 Dec 21. Mol Genet Metab. 2024. PMID: 38161139
Congenital Disorder of Glycosylation in a Child with Macrosomia.
Madan-Khetarpal S, He M, Wongkittichote P, Dobrowolski SF. Madan-Khetarpal S, et al. Among authors: wongkittichote p. Clin Chem. 2023 Dec 1;69(12):1432-1434. doi: 10.1093/clinchem/hvad166. Clin Chem. 2023. PMID: 38037438 No abstract available.
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A. Wongkittichote P, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107710. doi: 10.1016/j.ymgme.2023.107710. Epub 2023 Oct 20. Mol Genet Metab. 2023. PMID: 37903659
30 results