Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant von Lakkhana, Panisara, Tim-Aroon, Thipwimol, Khongkraparn, Arthaporn, Noojarern, Saisuda, Wongkittichote, Parith, Wichajarn, Khunton, Kuptanon, Chulaluck, Boonyawat, Boonchai, Suphapeetiporn, Kanya, Wejaphikul, Karn, Seo, GoHun, Wattanasirichaigoon, Duangrurdee

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A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie... von Pongphitcha, Pongpak, Sirachainan, Nongnuch, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Songdej, Duantida, Wattanasirichaigoon, Duangrurdee

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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients von Phetthong, Tim, Tim-Aroon, Thipwimol, Khongkraparn, Arthaporn, Noojarern, Saisuda, Kuptanon, Chulaluck, Wichajarn, Khunton, Sathienkijkanchai, Achara, Suphapeetiporn, Kanya, Charoenkwan, Pimlak, Tantiworawit, Adisak, Noentong, Naruwan, Wattanasirichaigoon, Duangrurdee

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Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing von Rojnueangnit, Kitiwan, Sirichongkolthong, Boonchu, Wongwandee, Ratthapon, Khetkham, Thanitchet, Noojarern, Saisuda, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee

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A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report von Katanyuwong, Poomiporn, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee

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MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance von Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand von Ngiwsara, Lukana, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Rojnueangnit, Kitiwan, Noojaroen, Saisuda, Khongkraparn, Arthaporn, Sawangareetrakul, Phannee, Ketudat-Cairns, James R, Charoenwattanasatien, Ratana, Champattanachai, Voraratt, Kuptanon, Chulaluck, Pangkanon, Suthipong, Svasti, Jisnuson

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A novel AP1S2 variant causing leaky splicing in X‐linked intellectual disability: Further delineation and intrafamilial variability von Noojarern, Saisuda, Tim‐Aroon, Thipwimol, Anurat, Kingthong, Phetthong, Tim, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee

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Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

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Comprehensive and long‐term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3 von Anurathapan, Usanarat, Tim‐Aroon, Thipwimol, Zhang, Wujuan, Sanpote, Watinee, Wongrungsri, Siranee, Khunin, Nitcha, Chutipongtanate, Somchai, Chirdkiatgumchai, Vilawan, Ngiwsara, Lukana, Jaovisidha, Suphaneewan, Khongkraparn, Arthaporn, Pakakasama, Samart, Svasti, Jisnuson, Setchell, Kenneth D. R., Wattanasirichaigoon, Duangrurdee, Hongeng, Suradej

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A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report von Katanyuwong, Poomiporn, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee

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