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Achara Sathienkijkanchai
Researcher at Mahidol University
Publications - 17
Citations - 365
Achara Sathienkijkanchai is an academic researcher from Mahidol University. The author has contributed to research in topics: Newborn screening & Beckwith–Wiedemann syndrome. The author has an hindex of 8, co-authored 16 publications receiving 321 citations. Previous affiliations of Achara Sathienkijkanchai include University of Alabama at Birmingham.
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Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.
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Amniotic constriction band: a multidisciplinary assessment of etiology and clinical presentation.
TL;DR: The variability of presentation between patients, the unusual nature of this constellation of findings, and the lack of a consensus on etiology are all reflected in the fact that thirty-four different names have been used to describe this entity in the literature.
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Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Nithiwat Vatanavicharn,Voraratt Champattanachai,Somporn Liammongkolkul,Phannee Sawangareetrakul,Siriporn Keeratichamroen,James R. Ketudat Cairns,James R. Ketudat Cairns,Chantragan Srisomsap,Achara Sathienkijkanchai,Vorasuk Shotelersuk,Vorasuk Shotelersuk,Mahattana Kamolsilp,Duangrurdee Wattanasirichaigoon,Jisnuson Svasti,Jisnuson Svasti,Pornswan Wasant +15 more
TL;DR: The genotype-phenotype correlation of isolated MMA in the study population is confirmed, a new molecular basis of the cblB disorder is identified, and RT-PCR analysis of a common intron 6 polymorphism revealed that it correlates to deep intronic exonization leading to premature termination of the open reading frame.
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Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
Nithiwat Vatanavicharn,Kenji Yamada,Yuka Aoyama,Toshiyuki Fukao,Narumon Densupsoontorn,Pipop Jirapinyo,Achara Sathienkijkanchai,Seiji Yamaguchi,Pornswan Wasant +8 more
TL;DR: The mutation analysis identified homozygous IVS2-10T>G in the SLC25A20 gene in both patients, confirming the diagnosis of CACT deficiency and in vitro bezafibrate responses using in vitro probe acylcarnitine (IVP).
Journal Article
Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).
TL;DR: Public health interventions aimed at increasing the periconceptional consumption of folic acid should be implemented or enhanced to reduce the incidence of NTDs in Thailand.