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Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
by
Keeratichamroen, S.
,
Ketudat Cairns, J. R.
,
Wattanasirichaigoon, D.
,
Wasant, P.
,
Ngiwsara, L.
,
Suwannarat, P.
,
Pangkanon, S.
,
Kuptanon, J.
,
Tanpaiboon, P.
,
Rujirawat, T.
,
Liammongkolkul, S.
,
Svasti, J.
Published in
Journal of inherited metabolic disease
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Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency
by
Vatanavicharn, N.
,
Kuptanon, C.
,
Liammongkolkul, S.
,
Liu, T.-T.
,
Hsiao, K.-J.
,
Ratanarak, P.
,
Blau, N.
,
Wasant, P.
Published in
Journal of inherited metabolic disease
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An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of theRMRP gene associated with chondrodysplasia and severe immunodeficiency
by
Vatanavicharn, N.
,
Visitsunthorn, N.
,
Pho-iam, T.
,
Jirapongsananuruk, O.
,
Pacharn, P.
,
Chokephaibulkit, K.
,
Limwongse, C.
,
Wasant, P.
Published in
Journal of applied genetics
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A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spo...
by
Kimura, Masahiko
,
Yoon, Hye Ran
,
Wasant, Pornswan
,
Takahashi, Yukitoshi
,
Yamaguchi, Seiji
Published in
Clinica chimica acta
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