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Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
- K. N. Nguyen, Elsayed Abdelkreem, D. Vũ
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 20 February 2017
Investigation findings of haplotypes linked to the most common ACAT1 mutation are consistent with an ancient common founder of mutation-bearing chromosomes belonging to the Kinh ethnic population, which is consistent with the natural history of this rare disease.
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation
The first patient with HSD10 disease in Asia is reported, with atypical clinical presentation, and a normal level of the HSD17B10 protein was found by immunoblot analysis but no 2M3HBD enzyme activity was detected in enzyme assays using the patient’s fibroblasts.