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Pornswan Wasant
Observed names:
P Wasant,
P. Wasant,
Pornswan Wasant,
Wasant, Pornswan
Institutions:
Siriraj Hospital,
Mahidol University
Observed institutions:
Siriraj Hospital,
Mahidol University
OpenAlex ID:
A5044960436
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients
2003
·
Hong-Zhi Gao
, Keiko Kobayashi
, et al.
·
Human Mutation
·
83
PDF
Fetal warfarin syndrome.
2005
·
Achara Sathienkijkanchai
, Pornswan Wasant
·
PubMed
·
34
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 spots
2002
·
Masahiko Kimura
, Hye Ran Yoon
, et al.
·
Clinica Chimica Acta
·
31
Molecular analysis of the iduronate‐2‐sulfatase gene in Thai patients with Hunter syndrome
2008
·
S. Keeratichamroen
, J. R. Ketudat Cairns
, et al.
·
Journal of Inherited Metabolic Disease
·
30
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia
2012
·
Nithiwat Vatanavicharn
, Voraratt Champattanachai
, et al.
·
Molecular Genetics and Metabolism
·
29
Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response
2014
·
Nithiwat Vatanavicharn
, Kenji Yamada
, et al.
·
Brain and Development
·
28
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand
2015
·
Kittiphong Thiboonboon
, Pattara Leelahavarong
, et al.
·
PLoS ONE
·
27
PDF
Genetic Counseling/Consultation in South‐East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics
2013
·
Olga Zayts
, Srikant Sarangi
, et al.
·
Journal of Genetic Counseling
·
26
PDF
Glutaric Aciduria Type 2, Late Onset Type in Thai Siblings With Myopathy
2010
·
Pornswan Wasant
, Chulaluck Kuptanon
, et al.
·
Pediatric Neurology
·
21
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia
2011
·
Nithiwat Vatanavicharn
, Somporn Liammongkolkul
, et al.
·
Pediatrics International
·
18
Organic acid disorders detected by urine organic acid analysis: Twelve cases in Thailand over three-year experience
2008
·
Pornswan Wasant
, Somporn Liammongkolkul
, et al.
·
Clinica Chimica Acta
·
17
Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).
2005
·
Pornswan Wasant
, Achara Sathienkijkanchai
·
PubMed
·
15
Novel mutation affecting the pterin‐binding site of PTS gene and review of PTS mutations in Thai patients with 6‐pyruvoyltetrahydropterin synthase deficiency
2009
·
N. Vatanavicharn
, C. Kuptanon
, et al.
·
Journal of Inherited Metabolic Disease
·
14
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience
2012
·
Nithiwat Vatanavicharn
, Pisanu Ratanarak
, et al.
·
Clinica Chimica Acta
·
13
Factors influencing development of Down syndrome children in the first three years of life: Siriraj experience.
2008
·
Pornswan Wasant
, Boonchai Boonyawat
, et al.
·
PubMed
·
13
Novel Mutations Found in Two Genes of Thai Patients with Isolated Methylmalonic Acidemia
2007
·
Siriporn Keeratichamroen
, James R. Ketudat Cairns
, et al.
·
Biochemical Genetics
·
13
Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001).
2005
·
Pornswan Wasant
, Nithiwat Vatanavicharn
, et al.
·
PubMed
·
13
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
2022
·
Somporn Liammongkolkul
, Boonchai Boonyawat
, et al.
·
Pediatrics International
·
11
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
2010
·
N. Vatanavicharn
, N. Visitsunthorn
, et al.
·
Journal of Applied Genetics
·
11
Inherited metabolic disorders in Thailand.
2002
·
Pornswan Wasant
, Jisnuson Svasti
, et al.
·
PubMed
·
11
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
2002
·
Pornswan Wasant
, Isamu Matsumoto
, et al.
·
PubMed
·
11
Inherited metabolic disorders in Thailand--Siriraj experience.
1999
·
P Wasant
, J Svasti
, et al.
·
PubMed
·
9
The molecular basis of mucopolysaccharidosis type I in two Thai patients.
2005
·
James R Ketudat Cairns
, Siriporn Keeratichamroen
, et al.
·
PubMed
·
7
AB133. Expanded newborn screening program in Thailand
2017
·
Somporn Liammongkolkul
, Kasinat Sanomcham
, et al.
·
Annals of Translational Medicine
·
6
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
2012
·
Wuh-Liang Hwu
, Torayuki Okuyama
, et al.
·
Molecular Genetics and Metabolism
·
6
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Works count:
70
Citation count:
594
H-index:
13
I10-index:
21
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