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An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients.
Sci Rep. 2024 Apr 22;14(1):9177. doi: 10.1038/s41598-024-59834-6.
Sci Rep. 2024.
PMID: 38649404
Free PMC article.
Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis.
Thewamit R, Khongkhatithum C, Thampratankul L, Kamolvisit W, Khongkrapan A, Wattanasirichaigoon D.
Thewamit R, et al. Among authors: khongkrapan a.
Front Pediatr. 2023 Aug 8;11:1155035. doi: 10.3389/fped.2023.1155035. eCollection 2023.
Front Pediatr. 2023.
PMID: 37614902
Free PMC article.
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Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.
Phetthong T, Khongkrapan A, Jinawath N, Seo GH, Wattanasirichaigoon D.
Phetthong T, et al. Among authors: khongkrapan a.
Genes (Basel). 2021 Oct 7;12(10):1583. doi: 10.3390/genes12101583.
Genes (Basel). 2021.
PMID: 34680978
Free PMC article.
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Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
Phetthong T, Tim-Aroon T, Khongkrapan A, Poomthavorn P, Wattanasirichaigoon D.
Phetthong T, et al. Among authors: khongkrapan a.
Am J Med Genet A. 2020 Aug;182(8):1873-1876. doi: 10.1002/ajmg.a.61723. Epub 2020 Jun 11.
Am J Med Genet A. 2020.
PMID: 32525229
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