A5030469839- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Craniofacial Disorders and Treatments
- Neonatal Health and Biochemistry
- RNA modifications and cancer
- Connective tissue disorders research
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Wnt/β-catenin signaling in development and cancer
- Lysosomal Storage Disorders Research
- Glycosylation and Glycoproteins Research
- Cleft Lip and Palate Research
- Bone Metabolism and Diseases
- Assisted Reproductive Technology and Twin Pregnancy
- Amino Acid Enzymes and Metabolism
- Fibroblast Growth Factor Research
- Proteoglycans and glycosaminoglycans research
- Skin and Cellular Biology Research
- Biomedical Research and Pathophysiology
- Biotechnology and Related Fields
- Down syndrome and intellectual disability research
- Insects and Parasite Interactions
- Lipid metabolism and disorders
Mahidol University
2014-2025
Siriraj Hospital
2009-2025
National Institute on Population Medical Genetics
2010
Cedars-Sinai Medical Center
2006-2008
Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD caused by hypomorphic TRIP11 mutations, identify as the nonlethal counterpart to achondrogenesis 1A (ACG1A), known null phenotype in humans. encodes Golgi-associated microtubule-binding protein 210 (GMAP-210), essential tether Golgi apparatus physically interacts with intraflagellar transport 20 (IFT20), a component ciliary complex B. This association extraskeletal...
We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families CHST3 mutations and report here a series 24 patients 23 families. The diagnostic hypothesis prior to molecular analysis had been: (15 families), (four cases), chondrodysplasia multiple...
ABSTRACT Galactosialidosis (GS) is a rare lysosomal storage disease (LSD) with variable onset caused by defect in protective protein/cathepsin A (PPCA) encoded the CTSA gene. The late‐infantile characterized developmental delay, visceromegaly, coarse facies, and cherry‐red macula. We report cases of GS Thai‐Lahu family, affected members initially presenting recurrent infections due to T‐cell defects. clinical features LSD macula led us perform enzyme assays, which showed undetectable...
Inborn errors of metabolism (IEM) are a rare group genetic diseases which can lead to several serious long-term complications in newborns. In order address these issues as early possible, process called tandem mass spectrometry (MS/MS) be used it allows for rapid and simultaneous detection the diseases. This analysis was performed determine whether newborn screening by MS/MS is cost-effective Thailand. A cost-utility comprising decision-tree Markov model estimate cost Thai baht (THB) health...
Abstract A multilayered patella is a characteristic radiographic finding of recessive multiple epiphyseal dysplasia (rMED) caused by DTDST mutations. However it has been recently reported in dominant MED case with COL9A2 mutation. We report on new patellar patient pseudoachondroplasia and heterozygous COMP It similar to the appearance fusing patellae rMED cases. This led us search International Skeletal Dysplasia Registry for abnormalities. did not observe this other skeletal dysplasias or...
Isovaleric acidemia (IVA) is an autosomal recessive disorder caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Clinical features include vomiting, lethargy, metabolic acidosis, and "sweaty feet" odor. The pathognomonic metabolite, isovalerylglycine, detected on urine organic acid analysis. diagnosis IVA can be confirmed mutation analysis the IVD gene.The cases five unrelated Thai patients with IVA, identified analysis, are described. Mutation gene was performed using polymerase...
We report on six cases from four families with the newly described skeletal disorder diaphanospondylodysostosis (DSD). The characteristic radiographic findings included abnormal ossification of vertebral bodies, posterior rib gaps, missing ribs, and a downward tilt pubic rami, but normal long bones. typical facial features DSD were ocular hypertelorism, short nose, depressed nasal bridge, low set ears. Other distinctive neck bell-shaped thorax, nephroblastomatosis. A history consanguinity...
Methylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency the enzyme methylmalonyl-CoA mutase or a defect in adenosyl-cobalamin synthesis. Chronic kidney disease its common complication and, combination with persistent acidosis, leads to hyperuricemia. Symptomatic hyperuricemia gout, however, has not been reported MMA. We herein report two pediatric cases MMA MMAB mutations (cblB defect) renal tubular chronic disease, hyperuricemia, and gout. The clinical...
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular neuronal cells. The disorder caused by deficiency β-hexosaminidase B (HEX-B), due to pathogenic variant human HEXB gene.This study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019.Five unrelated presenting developmental regression, axial hypotonia, seizures, exaggerated startle response noise,...
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, 2014, with funding support from National Health Security Office (NSHO). Methods: During the study period between May 2014 March 2017. Dried blood spots 99,234 newborns 15 public hospitals Bangkok were screened for amino acids, organic acids and fatty acid by (TMS). spot (DBS) samples taken on day 3...
Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience throughout their lives. This study aimed identify the molecular etiology of congenital two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and studies were performed. Patients found have pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, underdeveloped maxilla mandible. The skin biopsies...
Background: Classic organic acidurias, including isovaleric aciduria (IVA), propionic (PA) and methylmalonic (MMA), are rare inherited metabolic disorders caused by deficiencies of enzymes in catabolic pathways. Objective: To report clinical laboratory findings outcomes classic acidurias children north-eastern Thailand their over the past 5 years. Methods: During 2010?2014, twelve patients were identified as having confirmed urine acids analysis. Results: follows; with IVA, 4 PA, 3 MMA. Ten...