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Items: 19

1.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

2.

Juvenile gout in methylmalonic acidemia.

Charuvanij S, Pattaragarn A, Wisuthsarewong W, Vatanavicharn N.

Pediatr Int. 2016 Jun;58(6):501-503. doi: 10.1111/ped.12857. Epub 2016 Mar 8.

PMID:
26952825
3.

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
4.

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.

5.

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
6.

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
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.

BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH.

Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015.

12.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.

Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641.

PMID:
20830804
13.

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
14.

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
15.

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

Vatanavicharn N, Lachman RS, Rimoin DL.

Am J Med Genet A. 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313.

PMID:
18546327
16.

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
17.

Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.

Vatanavicharn N, Pressman BD, Wilcox WR.

J Inherit Metab Dis. 2008 Dec;31 Suppl 3:477-81. doi: 10.1007/s10545-007-0791-8. Epub 2008 Jan 22.

PMID:
18210212
18.

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2007 Oct 1;143A(19):2292-302.

PMID:
17764081
19.

Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001).

Wasant P, Vatanavicharn N, Srisomsap C, Sawangareetrakul P, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2005 Jun;88(6):746-53.

PMID:
16083213

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