Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder von Ittiwut, Chupong, Ittiwut, Rungnapa, Kuptanon, Chulaluck, Matsuhashi, Tetsuro, Shimura, Masaru, Sugiyama, Yohei, Onuki, Takanori, Ohtake, Akira, Murayama, Kei, Vatanavicharn, Nithiwat, Dejputtawat, Waralee, Tantisirivit, Nitchanund, Kor-anantakul, Phawin, Kamolvisit, Wuttichart, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk

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Phenotypic and molecular features of Thai patients with primary carnitine deficiency von Liammongkolkul, Somporn, Boonyawat, Boonchai, Vijarnsorn, Chodchanok, Tim‐Aroon, Thipwimol, Wasant, Pornswan, Vatanavicharn, Nithiwat

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An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand von Thiboonboon, Kittiphong, Leelahavarong, Pattara, Wattanasirichaigoon, Duangrurdee, Vatanavicharn, Nithiwat, Wasant, Pornswan, Shotelersuk, Vorasuk, Pangkanon, Suthipong, Kuptanon, Chulaluck, Chaisomchit, Sumonta, Teerawattananon, Yot

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Juvenile gout in methylmalonic acidemia von Charuvanij, Sirirat, Pattaragarn, Anirut, Wisuthsarewong, Wanee, Vatanavicharn, Nithiwat

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Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients von Tim-Aroon, Thipwimol, Wichajarn, Khunton, Katanyuwong, Kamornwan, Tanpaiboon, Pranoot, Vatanavicharn, Nithiwat, Sakpichaisakul, Kullasate, Kongkrapan, Arthaporn, Eu-Ahsunthornwattana, Jakris, Thongpradit, Supranee, Moolsuwan, Kanya, Satproedprai, Nusara, Mahasirimongkol, Surakameth, Lerksuthirat, Tassanee, Suktitipat, Bhoom, Jinawath, Natini, Wattanasirichaigoon, Duangrurdee

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Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response von Vatanavicharn, Nithiwat, Yamada, Kenji, Aoyama, Yuka, Fukao, Toshiyuki, Densupsoontorn, Narumon, Jirapinyo, Pipop, Sathienkijkanchai, Achara, Yamaguchi, Seiji, Wasant, Pornswan

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Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants von Ngiwsara, Lukana, Vatanavicharn, Nithiwat, Sawangareetrakul, Phannee, Liammongkolkul, Somporn, Ratanarak, Pisanu, Boonyawat, Boonchai, Srisomsap, Chantragan, Champattanachai, Voraratt, Ketudat-Cairns, James, Wasant, Pornswan, Svasti, Jisnuson

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BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing von Funari, Vincent A., Krakow, Deborah, Nevarez, Lisette, Chen, Zugen, Funari, Tara L., Vatanavicharn, Nithiwat, Wilcox, William R., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H.

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Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia von Vatanavicharn, Nithiwat, Liammongkolkul, Somporn, Sakamoto, Osamu, Sathienkijkanchai, Achara, Wasant, Pornswan

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Clinical characteristics and mutation analysis of propionic acidemia in Thailand von Vatanavicharn, Nithiwat, Liammongkolkul, Somporn, Sakamoto, Osamu, Kamolsilp, Mahattana, Sathienkijkanchai, Achara, Wasant, Pornswan

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Organic acid disorders detected by urine organic acid analysis: Twelve cases in Thailand over three-year experience von Wasant, Pornswan, Liammongkolkul, Somporn, Kuptanon, Chulaluck, Vatanavicharn, Nithiwat, Sathienkijakanchai, Achara, Shinka, Toshihiro

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Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion von Chaisrisawadisuk, Sarut, Vatanavicharn, Nithiwat, Khampalikit, Inthira, Moore, Mark H.

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Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain von Kantaputra, Piranit, Daroontum, Teerada, Kitiyamas, Kantapong, Piyakhunakorn, Panat, Kawasaki, Katsushige, Sathienkijkanchai, Achara, Wasant, Pornswan, Vatanavicharn, Nithiwat, Yasanga, Thippawan, Kaewgahya, Massupa, Tongsima, Sissades, Cox, Timothy C, Arold, Stefan T, Ohazama, Atsushi, Ngamphiw, Chumpol

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Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1 von Vatanavicharn, Nithiwat, Graham Jr, John M., Curry, Cynthia J., Pepkowitz, Samuel, Lachman, Ralph S., Rimoin, David L., Wilcox, William R.

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Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience von Vatanavicharn, Nithiwat, Ratanarak, Pisanu, Liammongkolkul, Somporn, Sathienkijkanchai, Achara, Wasant, Pornswan

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Bilateral squamosal synostosis: unusual presentation of chromosome 1p12–1p13.3 deletion. Illustrative case von Chaisrisawadisuk, Sarut, Vatanavicharn, Nithiwat, Praphanphoj, Verayuth, Anderson, Peter J., Moore, Mark H.

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Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: a 5-year retrospective study von Wichajarn, Khunton, Liammongkolkul, Somporn, Vatanavicharn, Nithiwat, Wattanasirichaigoon, Duangrurdee

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AB127. Provision of medical genetic services in Thailand: Siriraj experience von Wasant, Pornswan, Sathienkijkanchai, Achara, Vatanavicharn, Nithiwat, Liammongkolkul, Somporn

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AB124. Craniofacial anomalies: an experience at Siriraj Hospital von Wasant, Pornswan, Sathienkijkanchai, Achara, Vatanavicharn, Nithiwat, Liammongkolkul, Somporn

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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia von Wehrle, Anika, Witkos, Tomasz M, Unger, Sheila, Schneider, Judith, Follit, John A, Hermann, Johannes, Welting, Tim, Fano, Virginia, Hietala, Marja, Vatanavicharn, Nithiwat, Schoner, Katharina, Spranger, Jürgen, Schmidts, Miriam, Zabel, Bernhard, Pazour, Gregory J, Bloch-Zupan, Agnes, Nishimura, Gen, Superti-Furga, Andrea, Lowe, Martin, Lausch, Ekkehart

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