Publications by authors named "Can T Bich Ngoc"
: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH; OMIM 238970) is one of the rare urea cycle disorders. Ornithine carrier 1 deficiency causes HHH syndrome, characterized by failure of mitochondrial ornithine uptake, hyperammonemia, and accumulation of ornithine and lysine in the cytoplasm. The initial presentation and time of diagnosis in HHH highly varies.
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- Skeletal dysplasias are a group of rare genetic disorders that disrupt the normal development of bones and cartilage, with over 770 documented cases.
- A 13-month-old girl presented with jaundice and failure to thrive, leading to blood tests that showed abnormal levels of bilirubin and calcium, alongside irregular bone development.
- Whole exome sequencing identified a specific mutation in the BAAT gene as the cause of her skeletal dysplasia, contributing important genetic insights for future clinical applications.
Mucopolysaccharidoses (MPSs) are rare lysosomal storage diseases caused by the accumulation of undegraded glycosaminoglycans in cells and tissues. The effectiveness of early intervention for MPS has been reported. Multiple-assay formats using tandem mass spectrometry have been developed.
View Article and Find Full Text PDFPermanent neonatal diabetes mellitus (PNDM) is caused by reduced β-cell number or impaired β-cell function. Understanding of the genetic basis of this disorder highlights fundamental β-cell mechanisms. We performed trio genome sequencing for 44 patients with PNDM and their unaffected parents to identify causative de novo variants.
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- Genomic imprinting is a phenomenon where certain genes are expressed in a parent-of-origin-specific manner, and disruptions can lead to imprinting disorders affecting growth, behavior, and metabolism.
- This study utilized whole-exome sequencing on 38 families with members displaying multilocus imprinting disturbances, revealing 15 new cases linked to harmful variants in maternal effect genes.
- The findings suggest that maternal genetic factors can impact offspring development, indicating the need for testing for such variants in families with unusual imprinting disorders.*
Purpose: Osteogenesis imperfecta (OI) has not been studied in a Vietnamese population before. The aim of this study was to systematically collect epidemiological information, investigate clinical features and create a clinical database of OI patients in Vietnam for future research and treatment strategy development.
Method: Participants underwent clinical and physical examinations; also medical records were reviewed.