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Items: 13

1.

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome.

Suksawat Y, Sathienkijkanchai A, Veskitkul J, Jirapongsananuruk O, Visitsunthorn N, Vichyanond P, Pacharn P.

J Clin Immunol. 2017 May;37(4):375-382. doi: 10.1007/s10875-017-0394-6. Epub 2017 Apr 20.

PMID:
28429103
2.

Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.

Vatanavicharn N, Yamada K, Aoyama Y, Fukao T, Densupsoontorn N, Jirapinyo P, Sathienkijkanchai A, Yamaguchi S, Wasant P.

Brain Dev. 2015 Aug;37(7):698-703. doi: 10.1016/j.braindev.2014.10.005. Epub 2014 Nov 1.

PMID:
25459972
3.

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.

World J Pediatr. 2014 Feb;10(1):64-8. doi: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25.

PMID:
24464666
4.

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P.

Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29.

PMID:
22695176
5.

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.

Vatanavicharn N, Ratanarak P, Liammongkolkul S, Sathienkijkanchai A, Wasant P.

Clin Chim Acta. 2012 Jul 11;413(13-14):1141-4. doi: 10.1016/j.cca.2012.03.014. Epub 2012 Mar 23.

PMID:
22465081
6.

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Sathienkijkanchai A, Wasant P.

Pediatr Int. 2011 Dec;53(6):990-4. doi: 10.1111/j.1442-200X.2011.03488.x.

PMID:
22004070
7.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
8.

Amniotic constriction band: a multidisciplinary assessment of etiology and clinical presentation.

Goldfarb CA, Sathienkijkanchai A, Robin NH.

J Bone Joint Surg Am. 2009 Jul;91 Suppl 4:68-75. doi: 10.2106/JBJS.I.00339. No abstract available.

PMID:
19571071
9.

A genetic model for cloacal exstrophy, the extreme cloacal malformation.

Robin NH, Sathienkijkanchai A, Herndon CD.

J Pediatr Urol. 2007 Jun;3(3):214-7. doi: 10.1016/j.jpurol.2006.08.003. Epub 2006 Oct 20.

PMID:
18947738
10.

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

Sathienkijkanchai A, Prucka SK, Grant JH, Robin NH.

J Craniofac Surg. 2008 Jan;19(1):279-83. doi: 10.1097/SCS.0b013e31815ca067.

PMID:
18216702
11.

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ.

Am J Med Genet A. 2007 Aug 1;143A(15):1760-6.

PMID:
17603794
12.

Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).

Wasant P, Sathienkijkanchai A.

J Med Assoc Thai. 2005 Nov;88 Suppl 8:S92-9.

PMID:
16858850
13.

Fetal warfarin syndrome.

Sathienkijkanchai A, Wasant P.

J Med Assoc Thai. 2005 Nov;88 Suppl 8:S246-50.

PMID:
16856447

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