29 results on '"Niu, Dau-Ming"'
Search Results
2. Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
3. The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots
4. Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan
5. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
6. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
7. Corneal Lesion as the Initial Manifestation of Tyrosinemia Type II
8. Electrophysiological Changes in Lipaemia Retinalis
9. Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.
10. Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane
11. KMT2D-related disorder with a restricted spectrum distinct from Kabuki syndrome: A rare case report describing male twins in Taiwan and a literature review.
12. Giant Congenital Melanocytic Nevi in Neonates: Report of Two Cases
13. Extreme Hypernatremia Combined With Rhabdomyolysis and Acute Renal Failure
14. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency.
15. Lenticular Subluxation in a Patient with Homocystinuria Undetected by Neonatal Screening
16. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect.
17. Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
18. Assessment of body composition using bioelectrical impedance analysis in Prader-Willi syndrome.
19. Clinical features of osteogenesis imperfecta in Taiwan.
20. Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests
21. Functional defects of CD46-induced regulatory T cells to suppress airway inflammation in mite allergic asthma.
22. Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA.
23. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
24. Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan.
25. Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation.
26. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography.
27. Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
28. Comparison of hypothalamopituitary axis dysfunction of intrasellar and third ventricular craniopharyngiomas in children
29. A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.