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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
CONTEXT Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with café au lait macules… Expand
Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).
- P. Wasant, A. Sathienkijkanchai
- Journal of the Medical Association of Thailand…
- 1 November 2005
OBJECTIVES Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity. NTDs occur… Expand
Clinical characteristics and mutation analysis of propionic acidemia in Thailand
- N. Vatanavicharn, S. Liammongkolkul, O. Sakamoto, Mahattana Kamolsilp, A. Sathienkijkanchai, P. Wasant
- World Journal of Pediatrics
- 25 January 2014
BackgroundPropionic acidemia (PA) is caused by a deficiency of propionyl CoA carboxylase. A characteristic urine organic acid profile includes 3-hydroxypropionate, methylcitrate, tiglylglycine, and… Expand
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
- Yiwa Suksawat, A. Sathienkijkanchai, +4 authors P. Pacharn
- Biology, Medicine
- Journal of Clinical Immunology
- 20 April 2017
PurposePatients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change… Expand
Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
- Fady M. Mikhail, A. Sathienkijkanchai, +9 authors Andrew J. Carroll
- Medicine, Biology
- American journal of medical genetics. Part A
- 1 August 2007
We report on an 8‐month‐old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated… Expand
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
- N. Vatanavicharn, V. Champattanachai, +10 authors P. Wasant
- Biology, Medicine
- Molecular genetics and metabolism
- 1 August 2012
Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous organic acid disorder caused by either deficiency of the enzyme methylmalonyl-CoA mutase (MCM), or a defect in the biosynthesis of… Expand
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia
- N. Vatanavicharn, S. Liammongkolkul, O. Sakamoto, A. Sathienkijkanchai, P. Wasant
- Pediatrics international : official journal of…
- 1 December 2011
Background: Isovaleric acidemia (IVA) is an autosomal recessive disorder caused by deficiency of isovaleryl‐CoA dehydrogenase (IVD). Clinical features include vomiting, lethargy, metabolic acidosis,… Expand
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.
- N. Vatanavicharn, P. Ratanarak, S. Liammongkolkul, A. Sathienkijkanchai, P. Wasant
- Clinica chimica acta; international journal of…
- 11 July 2012
BACKGROUND Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This study was aimed to provide the data of amino acid disorders detected… Expand
A genetic model for cloacal exstrophy, the extreme cloacal malformation.
Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of… Expand
AB133. Expanded newborn screening program in Thailand
- S. Liammongkolkul, Kasinat Sanomcham, N. Vatanavicharn, A. Sathienkijkanchai, E. Ranieri, P. Wasant
- 23 September 2017
Background A pilot expanded newborn screening (NBS) program to detect inborn errors of metabolism (IEM) using tandem mass spectrometry (TMS) began at Siriraj Hospital, Bangkok, Thailand in May,… Expand