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Issue DateTitleAuthor(s)
1-Mar-20171q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndromeThipwimol Tim-Aroon; Natini Jinawath; Weerin Thammachote; Praweena Sinpitak; Anchalee Limrungsikul; Chaiyos Khongkhatithum; Duangrurdee Wattanasirichaigoon; Mahidol University; DNA Center
1-Mar-20135'UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart DiseaseAlisa Limsuwan; Lulin Choubtum; Duangrurdee Wattanasirichaigoon; Mahidol University
1-Jan-2011Carnitine levels and cardiac functions in children with solid malignancies receiving doxorubicin therapyAnant Khositseth; Suwadee Jirasakpisarn; Samart Pakakasama; Lulin Choubtuym; Duangrurdee Wattanasirichaigoon; Mahidol University
1-Feb-2017Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: A 5-year retrospective studyKhunton Wichajarn; Somporn Liammongkolkul; Nithiwat Vatanavicharn; Duangrurdee Wattanasirichaigoon; Khon Kaen University; Mahidol University
11-Oct-2006Clinical and molecular characterization of an extended family with fabry diseaseDuangrurdee Wattanasirichaigoon; Jisnuson Svasti; James R. Ketudat Cairns; Kanchana Tangnararatchakit; Anannit Visudtibhan; Siriporn Keeratichamroen; Lukana Ngiwsara; Pongsakdi Khowsathit; Tassanee Onkoksoong; Apatsa Lekskul; Dowruang Mongkolsiri; Chanchai Jariengprasert; Cheamchit Thawil; Suwimol Ruencharoen; Mahidol University; Chulabhorn Research Institute; Suranaree University of Technology; Sukhothai Hospital; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-Aug-2012Clinical and molecular findings in Thai patients with isolated methylmalonic acidemiaNithiwat Vatanavicharn; Voraratt Champattanachai; Somporn Liammongkolkul; Phannee Sawangareetrakul; Siriporn Keeratichamroen; James R. Ketudat Cairns; Chantragan Srisomsap; Achara Sathienkijkanchai; Vorasuk Shotelersuk; Mahattana Kamolsilp; Duangrurdee Wattanasirichaigoon; Jisnuson Svasti; Pornswan Wasant; Mahidol University; Chulabhorn Research Institute; Suranaree University of Technology; Chulalongkorn University; King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University; Phramongkutklao College of Medicine
11-Sep-2019Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in ThailandLukana 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; Suranaree University of Technology; Chulabhorn Research Institute; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Faculty of Medicine, Thammasat University; Queen Sirikit National Institute of Child Health; Synchrotron Light Research Institute
1-Sep-2019Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defectsKitiwan Rojnueangnit; Chariyawan Charalsawadi; Weerin Thammachote; Ariya Pradabmuksiri; Thipwimol Tim-Aroon; Antonio Novelli; Sara Loddo; Silvana Briuglia; Cutrupi M. Concetta; Duangrurdee Wattanasirichaigoon; Natini Jinawath; IRCCS Ospedale Pediatrico Bambino Gesù; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Faculty of Medicine, Thammasat University; Mahidol University; Università degli Studi di Messina; Prince of Songkla University; Surat Thani Hospital
1-Jan-2021Clinical utility of low branched-chain amino acid modular diets in patients with isovaleric aciduria and maple syrup urine diseaseSuthida Chatvuttinun; Duangrurdee Wattanasirichaigoon; Visith Chavasit; Oraporn Dumrongwongsiri; Thipwimol Tim-Aroon; Umaporn Suthutvoravut; Nalinee Chongviriyaphan; Faculty of Medicine Ramathibodi Hospital, Mahidol University; Mahidol University
1-Aug-2018Clinicoradiological and genetic analyses of three Thai families with hereditary hemorrhagic telangiectasia in Ramathibodi hospitalSirintara Pongpech Singhara Na Ayudhaya; Thipwimol Tim-Aroon; Chaiyos Khongkhatithum; Duangrurdee Wattanasirichaigoon; Ekachat Chanthanaphak; Chai Kobkitsuksakul; Kittiphop Somboonnithiphol; Faculty of Medicine, Khon Kaen University; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-Sep-2013A common and two novel GBA mutations in Thai patients with Gaucher diseaseRachaneekorn Tammachote; Siraprapa Tongkobpetch; Chalurmpon Srichomthong; Kampon Phipatthanananti; Suthipong Pungkanon; Duangrurdee Wattanasirichaigoon; Kanya Suphapeetiporn; Vorasuk Shotelersuk; Chulalongkorn University; King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University; Queen Sirikit National Institute of Child Health; Mahidol University
1-Oct-2021Compound heterozygote of point mutation and chromosomal microdeletion involving otud6b coinciding with zmiz1 variant in syndromic intellectual disabilityTim Phetthong; Arthaporn Khongkrapan; Natini Jinawath; Go Hun Seo; Duangrurdee Wattanasirichaigoon; Faculty of Medicine Ramathibodi Hospital, Mahidol University; Mahidol University; Phramongkutklao College of Medicine
21-Sep-2017A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic responseWujuan Zhang; Melissa Oehrle; Carlos E. Prada; Ida Vanessa D. Schwartz; Somchai Chutipongtanate; Duangrurdee Wattanasirichaigoon; Venette Inskeep; Mei Dai; Dao Pan; Ying Sun; Kenneth D.R. Setchell; Cincinnati Children's Hospital Medical Center; International Hospital of Colombia; Hospital de Clinicas de Porto Alegre; Universidade Federal do Rio Grande do Sul; Mahidol University
1-Jan-2019Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience (Journal of Community Genetics, (2019), 10.1007/s12687-019-00435-6)Sukrit Suwannachat; Duangrurdee Wattanasirichaigoon; Jiraporn Arunakul; Vilawan Chirdkiatgumchai; Thipwimol Tim-Aroon; Faculty of Medicine, Ramathibodi Hospital, Mahidol University
1-Sep-2012Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific regionWuh Liang Hwu; Torayuki Okuyama; Wai Man But; Sylvia Estrada; Xuefan Gu; Joannie Hui; Motomichi Kosuga; Shuan Pei Lin; Lock Hock Ngu; Huiping Shi; Akemi Tanaka; Meow Keong Thong; Duangrurdee Wattanasirichaigoon; Pornswan Wasant; Jim McGill; National Taiwan University Hospital; National Center for Child Health and Development; Queen Elizabeth Hospital Hong Kong; University of the Philippines College of Medicine; Philippine General Hospital; National Institutes of Health, Bethesda; Shanghai Jiao Tong University School of Medicine; Prince of Wales Hospital Hong Kong; Mackay Memorial Hospital Taiwan; Kuala Lumpur Hospital; Peking Union Medical College; Osaka City University; University of Malaya; Mahidol University; Royal Children's Hospital Brisbane
1-Dec-2012Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cellsRatana Charoenwattanasatien; James R Ketudat Cairns; Siriporn Keeratichamroen; Phannee Sawangareetrakul; Pranoot Tanpaiboon; Duangrurdee Wattanasirichaigoon; Suthipong Pangkanon; Jisnuson Svasti; Voraratt Champattanachai; Chulabhorn Research Institute; Chulabhorn Graduate Institute; Suranaree University of Technology; Childrens National Health System; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Queen Sirikit National Institute of Child Health; Mahidol University
1-Jan-2018Development of food products using fish maw (Pangasius hypophthalmus) and roasted sunflower kernel (Helianthus annuus) for branched-chain organic acidurias patientsSuthida Chatvuttinun; Visith Chavasit; Duangrurdee Wattanasirichaigoon; Umaporn Suthutvoravut; Nalinee Chongviriyaphan; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Mahidol University
1-Jun-2007Distal Renal Tubular Acidosis Associated With Anion Exchanger 1 Mutations in Children in ThailandSookkasem Khositseth; Apiwan Sirikanerat; Kulruedee Wongbenjarat; Sauwalak Opastirakul; Siri Khoprasert; Ratikorn Peuksungnern; Duangrurdee Wattanasirichaigoon; Wanna Thongnoppakhun; Vip Viprakasit; Pa thai Yenchitsomanus; Faculty of Medicine, Thammasat University; Chiang Mai University; Mahidol University; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Division of Medical Molecular Biology
10-Aug-2015An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in ThailandKittiphong Thiboonboon; Pattara Leelahavarong; Duangrurdee Wattanasirichaigoon; Nithiwat Vatanavicharn; Pornswan Wasant; Vorasuk Shotelersuk; Suthipong Pangkanon; Chulaluck Kuptanon; Sumonta Chaisomchit; Yot Teerawattananon; Thailand Ministry of Public Health; Mahidol University; Chulalongkorn University
1-Apr-2022Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1Pharuhad Pongmee; Sanchawan Wittayakornrerk; Ramrada Lekwuttikarn; Sasikarn Pakdeeto; Piangor Watcharakuldilok; Chatchay Prempunpong; Thipwimol Tim-Aroon; Chawintee Puttanapitak; Piyawan Wattanasoontornsakul; Thitiporn Junhasavasdikul; Parith Wongkittichote; Saisuda Noojarern; Duangrurdee Wattanasirichaigoon; Washington University School of Medicine in St. Louis; Faculty of Medicine Ramathibodi Hospital, Mahidol University; Maharaj Nakhon Ratchasima Hospital; Buriram Hospital