Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency

di Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Pubblicato in Diseases (2020)

AB085. Diagnosis of Prader-Willi syndrome using computer-aided facial dysmorphism analysis in Thai patients

di Tim-Aroon, Thipwimol, Mongkollarp, Nantiya, Khunin, Waraphorn, Wattanasirichaigoon, Duangrurdee
Pubblicato in Ann Transl Med (2017)

Carnitine levels and cardiac functions in children with solid malignancies receiving doxorubicin therapy

di Khositseth, Anant, Jirasakpisarn, Suwadee, Pakakasama, Samart, Choubtuym, Lulin, Wattanasirichaigoon, Duangrurdee
Pubblicazione 2011

AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases

di Tim-Aroon, Thipwimol, Leklab, Suphatcharee, Satawiriya, Marin, Ketsuwan, Sirima, Wattanasirichaigoon, Duangrurdee
Pubblicato in Ann Transl Med (2017)

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

di Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Pubblicato in J Community Genet (2019)

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

di Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Pubblicato in J Community Genet (2019)

Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports

di Preutthipan, Aroonwan, Kuptanon, Teeradej, Kamalaporn, Harutai, Leejakpai, Anchalee, Nugboon, Malinee, Wattanasirichaigoon, Duangrurdee
Pubblicato in J Med Case Rep (2015)

Successful pregnancy outcome in Herlyn‐Werner‐Wunderlich syndrome with pyocolpos: A case report and literature review

di Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Diawtipsukon, Sanpon, Tingthanatikul, Yada, Satirapod, Chonthicha, Wattanasirichaigoon, Duangrurdee
Pubblicato in Clin Case Rep (2020)

Screening of SLC25A13 mutation in the Thai population

di Wongkittichote, Parith, Sukasem, Chonlaphat, Kikuchi, Atsuo, Aekplakorn, Wichai, Jensen, Laran T, Kure, Shigeo, Wattanasirichaigoon, Duangrurdee
Pubblicazione 2013

Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years

di Mongkollarp, Nantiya, Tim-Aroon, Thipwimol, Okascharoen, Chusak, Wichajarn, Khunton, Phosuwattanakul, Jeeraparn, Chongviriyaphan, Nalinee, Wattanasirichaigoon, Duangrurdee
Pubblicato in Orphanet J Rare Dis (2020)

Etiologies, Prognostic Factors, and Outcomes of Pediatric Acute Liver Failure in Thailand

di Getsuwan, Songpon, Lertudomphonwanit, Chatmanee, Tanpowpong, Pornthep, Thirapattaraphan, Chollasak, Tim-Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Treepongkaruna, Suporn
Pubblicato in Pediatr Gastroenterol Hepatol Nutr (2020)

Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

di Treepongkaruna, Suporn, Jitraruch, Suttiruk, Kodcharin, Porawee, Charoenpipop, Dussadee, Suwannarat, Pim, Pienvichit, Paneeya, Kobayashi, Keiko, Wattanasirichaigoon, Duangrurdee
Pubblicazione 2012

AB009. Biochemical and molecular research on lysosomal storage disorders in Thai patients

di Ngiwsara, Lukana, Svasti, Jisnuson, Cairns, James, Champattanachai, Voraratt, Vatanavicharn, Nithiwat, Wasant, Pornswan, Kuptanon, Chulaluck, Wattanasirichaigoon, Duangrurdee
Pubblicato in Ann Transl Med (2017)

AB051. Chromosomal microarray analysis in a large cohort of Thai patients with autism spectrum disorder

di Worachotekamjorn, Juthamas, Hansakunachai, Tippawan, Rojnueangnit, Kitiwan, Roongpraiwan, Rawiwan, Ruangdaraganon, Nichara, Wattanasirichaigoon, Duangrurdee, Jinawath, Natini, Limprasert, Pornprot
Pubblicato in Ann Transl Med (2017)

Haplotypes of IL12B promoter polymorphisms condition susceptibility to severe malaria and functional changes in cytokine levels in Thai adults

di Phawong, Chintana, Ouma, Collins, Tangteerawatana, Piyatida, Thongshoob, Jarinee, Were, Tom, Mahakunkijcharoen, Yuvadee, Wattanasirichaigoon, Duangrurdee, Perkins, Douglas Jay, Khusmith, Srisin
Pubblicazione 2010

Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay

di Ngiwsara, Lukana, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Tim-Aroon, Thipwimol, Sawangareetrakul, Phannee, Champattanachai, Voraratt, Ketudat-Cairns, James R., Svasti, Jisnuson
Pubblicato in Exp Ther Med (2017)

Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p

di Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Wongkittichote, Parith, Phillips, John D, Cox, James E, Jensen, Amornrat N, Wattanasirichaigoon, Duangrurdee, Jensen, Laran T
Pubblicato in FEMS Yeast Res (2019)

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

di Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomchit, Sumonta, Teerawattananon, Yot
Pubblicato in PLoS One (2015)

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

di Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Tim-Aroon, Thipwimol, Parinayok, Rachanee, Chareonsirisuthigul, Takol, Korkiatsakul, Veerawat, Waisayarat, Jariya, Sirisreetreerux, Pokket, Tingthanatikul, Yada, Wattanasirichaigoon, Duangrurdee
Pubblicato in J Pediatr Genet (2020)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

di Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Pubblicato in Sci Rep (2020)