Search Results - "Amarinthnukrowh, P."

Novel mutations in the FUCA1 gene that cause fucosidosis by Panmontha, W, Amarinthnukrowh, P, Damrongphol, P, Desudchit, T, Suphapeetiporn, K, Shotelersuk, V

“…Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its…”
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Clinical and Molecular Characterization of Thai Patients with Wiskott–Aldrich Syndrome by Amarinthnukrowh, P., Ittiporn, S., Tongkobpetch, S., Chatchatee, P., Sosothikul, D., Shotelersuk, V., Suphapeetiporn, K.

“…Wiskott–Aldrich syndrome (WAS) is an X‐linked recessive primary immunodeficiency disorder caused by mutations in the gene encoding the WAS protein (WASP)…”
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p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease by Amarinthnukrowh, Pramuk, Tongkobpetch, Siraprapa, Kongpatanayothin, Apichai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

“…to describe genetic features of five unrelated Thai families with infantile-onset Pompe disease caused by mutations in the acid α-glucosidase (GAA) gene. total…”
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