The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: A case report

بواسطة Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

بواسطة Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

بواسطة Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Glutaric aciduria type 2, late onset type in thai siblings with myopathy

بواسطة Pornswan Wasant, Chulaluck Kuptanon, Nithiwat Vattanavicharn, Somporn Liammongkolkul, Pisanu Ratanarak, Tumtip Sangruchi, Seiji Yamaguchi
منشور في 2018

An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in Thailand

بواسطة Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon
منشور في 2018

p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells

بواسطة Lukana Ngiwsara, James R. Ketudat-Cairns, Phannee Sawangareetrakul, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Jisnuson Svasti
منشور في 2019

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

بواسطة 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
منشور في 2022

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

بواسطة Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
منشور في 2020

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII

بواسطة Piranit N. Kantaputra, Lachlan J. Smith, Margret L. Casal, Chulaluck Kuptanon, Yu Cheng Chang, Sheela Nampoothiri, Apichai Paiyarom, Thanat Veerasakulwong, Objoon Trachoo, James R. Ketudat Cairns, Wannapa Chinadet, Pranoot Tanpaiboon
منشور في 2019

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand

بواسطة Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong, Chupong Ittiwut, Chureerat Phokaew, Rungnapa Ittiwut, Adjima Assawapitaksakul, Wanna Chetruengchai, Aayalida Buasong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2022

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

بواسطة Yen Hui Chiu, Ying Chen Chang, Yu Hsin Chang, Dau Ming Niu, Yan Ling Yang, Jun Ye, Jianhui Jiang, Yoshiyuki Okano, Dong Hwan Lee, Suthipong Pangkanon, Chulaluck Kuptanon, Ngu Lock Hock, Mary Anne Chiong, Barbra V. Cavan, Kwang Jen Hsiao, Tze Tze Liu
منشور في 2018