• Publications
  • Influence
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 maculesExpand
  • 102
  • 10
  • PDF
Neural tube defects at Siriraj Hospital, Bangkok, Thailand--10 years review (1990-1999).
OBJECTIVES Neural tube defects (NTDs), (including anencephaly, meningomyelocele and encephalocele), are among the most common birth defects, with high associated mortality and morbidity. NTDs occurExpand
  • 17
  • 1
  • PDF
Clinical characteristics and mutation analysis of propionic acidemia in Thailand
BackgroundPropionic acidemia (PA) is caused by a deficiency of propionyl CoA carboxylase. A characteristic urine organic acid profile includes 3-hydroxypropionate, methylcitrate, tiglylglycine, andExpand
  • 5
  • 1
  • PDF
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
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 changeExpand
  • 4
  • 1
Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)
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 associatedExpand
  • 6
  • 1
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
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 ofExpand
  • 20
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia
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
  • 14
Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: an eight-year experience.
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 detectedExpand
  • 10
  • PDF
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 ofExpand
  • 3
AB133. Expanded newborn screening program in Thailand
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
  • 1