Nithiwat Vatanavicharn
Siriraj Hospital(TH)Mahidol University(TH)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Biochemical and Molecular Research, Craniofacial Disorders and Treatments
Most-Cited Works
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features(2010)80 cited
- → Hypomorphic mutations of TRIP11 cause odontochondrodysplasia(2019)78 cited
- → BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing(2010)36 cited
- → An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand(2015)32 cited
- → Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia(2012)29 cited
- → Carnitine–acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response(2014)28 cited
- → Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report(2008)22 cited
- → Organic acid disorders detected by urine organic acid analysis: Twelve cases in Thailand over three-year experience(2008)20 cited
- → Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia(2008)18 cited