A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report

por Katanyuwong, Poomiporn, Khongkraparn, Arthaporn, Wattanasirichaigoon, Duangrurdee
Publicado 2022

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

por Chalermwat, Chalongchai, Thosapornvichai, Thitipa, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Publicado 2020

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

por Khositseth, Anant, Jirasakpisarn, Suwadee, Pakakasama, Samart, Choubtuym, Lulin, Wattanasirichaigoon, Duangrurdee
Publicado 2011

Identification of Alpha Thalassemia, RNF213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome

por Thampratankul, Lunliya, Okuno, Yusuke, Komvilaisak, Patcharee, Wattanasirichaigoon, Duangrurdee, Sirachainan, Nongnuch
Publicado 2022

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

por Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Publicado 2019

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

por Suwannachat, Sukrit, Wattanasirichaigoon, Duangrurdee, Arunakul, Jiraporn, Chirdkiatgumchai, Vilawan, Tim-Aroon, Thipwimol
Publicado 2019

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

por Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee
Publicado 2021

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

por Thewamit, Rapeepat, Khongkhatithum, Chaiyos, Thampratankul, Lunliya, Kamolvisit, Wuttichart, Khongkrapan, Arthaporn, Wattanasirichaigoon, Duangrurdee
Publicado 2023

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

por Preutthipan, Aroonwan, Kuptanon, Teeradej, Kamalaporn, Harutai, Leejakpai, Anchalee, Nugboon, Malinee, Wattanasirichaigoon, Duangrurdee
Publicado 2015

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

por Tangshewinsirikul, Chayada, Dulyaphat, Wirada, Diawtipsukon, Sanpon, Tingthanatikul, Yada, Satirapod, Chonthicha, Wattanasirichaigoon, Duangrurdee
Publicado 2020

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

por Wilaiwongsathien, Kalyarat, Wattanasirichaigoon, Duangrurdee, Rattanasiri, Sasivimol, Aonnuam, Chanatpon, Tangshewinsirikul, Chayada, Tim-Aroon, Thipwimol
Publicado 2023

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficie...

por Pongphitcha, Pongpak, Sirachainan, Nongnuch, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Songdej, Duantida, Wattanasirichaigoon, Duangrurdee
Publicado 2022

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

por Mongkollarp, Nantiya, Tim-Aroon, Thipwimol, Okascharoen, Chusak, Wichajarn, Khunton, Phosuwattanakul, Jeeraparn, Chongviriyaphan, Nalinee, Wattanasirichaigoon, Duangrurdee
Publicado 2020

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

por Getsuwan, Songpon, Lertudomphonwanit, Chatmanee, Tanpowpong, Pornthep, Thirapattaraphan, Chollasak, Tim-Aroon, Thipwimol, Wattanasirichaigoon, Duangrurdee, Treepongkaruna, Suporn
Publicado 2020

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

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

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome

por Veenin, Kirana, Wattanasirichaigoon, Duangrurdee, Suktitipat, Bhoom, Noojarern, Saisuda, Lertrit, Patcharee, Tim-Aroon, Thipwimol, Kaewsutthi, Supannee, Treepongkaruna, Suporn
Publicado 2022

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

por Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomchit, Sumonta, Teerawattananon, Yot
Publicado 2015

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance

por Thongpradit, Supranee, Jinawath, Natini, Javed, Asif, Noojarern, Saisuda, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Lertsukprasert, Krisna, Suktitipat, Bhoom, Jensen, Laran T., Wattanasirichaigoon, Duangrurdee
Publicado 2020

Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

por Adachi, Takeya, El-Hattab, Ayman W., Jain, Ritu, Nogales Crespo, Katya A., Quirland Lazo, Camila I., Scarpa, Maurizio, Summar, Marshall, Wattanasirichaigoon, Duangrurdee
Publicado 2023

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

por Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini
Publicado 2019