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Items: 1 to 20 of 45

1.

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V.

Biochem Genet. 2015 Dec;53(11-12):310-8. doi: 10.1007/s10528-015-9694-9. Epub 2015 Sep 14.

PMID:
26370686
2.

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

Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y.

PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015.

3.

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
4.

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
5.

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics.

Zayts O, Sarangi S, Thong MK, Chung BH, Lo IF, Kan AS, Lee JM, Padilla CD, Cutiongco-de la Paz EM, Faradz SM, Wasant P.

J Genet Couns. 2013 Dec;22(6):917-24. doi: 10.1007/s10897-013-9646-7. Epub 2013 Sep 19.

PMID:
24048708
6.

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, Kosuga M, Lin SP, Ngu LH, Shi H, Tanaka A, Thong MK, Wattanasirichaigoon D, Wasant P, McGill J.

Mol Genet Metab. 2012 Sep;107(1-2):136-44. doi: 10.1016/j.ymgme.2012.07.019. Epub 2012 Jul 20.

PMID:
22864057
7.

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
8.

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
9.

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
10.

An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.

Vatanavicharn N, Visitsunthorn N, Pho-iam T, Jirapongsananuruk O, Pacharn P, Chokephaibulkit K, Limwongse C, Wasant P.

J Appl Genet. 2010;51(4):523-8. doi: 10.1007/BF03208884.

PMID:
21063072
11.

Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.

Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S.

Pediatr Neurol. 2010 Oct;43(4):279-82. doi: 10.1016/j.pediatrneurol.2010.05.018.

PMID:
20837308
12.

Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency.

Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S279-82. doi: 10.1007/s10545-009-1221-x. Epub 2009 Oct 13. Review.

PMID:
19830588
13.

Down syndrome parents' support group in Thailand Siriraj Hospital, fifteen years experience: a review.

Wasant P, Rajchagool C.

J Med Assoc Thai. 2009 Sep;92(9):1256-62.

PMID:
19772188
14.

Organising services for IMD in Thailand: twenty years experience.

Wasant P.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):117-3.

15.

Factors influencing development of Down syndrome children in the first three years of life: Siriraj experience.

Wasant P, Boonyawat B, Tritilanunt S, Vatanavicharn N, Sathienkijakanchai A, Ratanarak P, Malilum O, Liammongkolkul S.

J Med Assoc Thai. 2008 Jul;91(7):1030-7.

PMID:
18839841
16.

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.

Keeratichamroen S, Cairns JR, Wattanasirichaigoon D, Wasant P, Ngiwsara L, Suwannarat P, Pangkanon S, Kuptanon J, Tanpaiboon P, Rujirawat T, Liammongkolkul S, Svasti J.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S303-11. doi: 10.1007/s10545-008-0876-z. Epub 2008 May 20.

PMID:
18500569
17.

Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.

Wasant P, Liammongkolkul S, Kuptanon C, Vatanavicharn N, Sathienkijakanchai A, Shinka T.

Clin Chim Acta. 2008 Jun;392(1-2):63-8. doi: 10.1016/j.cca.2008.02.015. Epub 2008 Feb 23.

PMID:
18339316
18.

Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.

Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.

Clin Chem Lab Med. 2007;45(8):972-80.

PMID:
17867985
19.

Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.

Biochem Genet. 2007 Jun;45(5-6):421-30. Epub 2007 Apr 5.

PMID:
17410422
20.

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

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