25 results on '"Niu, Dau-Ming"'
Search Results
2. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients
3. Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay
4. Fabry disease: Review and experience during newborn screening
5. Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
6. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes
7. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease
8. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes
9. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency
10. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect
11. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
12. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma
13. Recessive congenital methemoglobinemia caused by a rare mechanism: Maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22
14. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
15. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
16. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
17. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy With Enzyme Replacement Therapy
18. Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
19. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
20. Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II
21. Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane
22. Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases
23. Extreme Hypernatremia Combined With Rhabdomyolysis and Acute Renal Failure
24. Lenticular Subluxation in a Patient with Homocystinuria Undetected by Neonatal Screening
25. Electrophysiological Changes in Lipaemia Retinalis
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