23 results on '"Niu, Dau-Ming"'
Search Results
2. AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation
3. AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease
4. AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease
5. AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute
6. AB049. Diagnosis and treatment of phenylketonuria in Taiwan- experience from a national newborn screening confirmatory center
7. AB001. Methylmalonic and propionic acidemias: comparative outcomes between liver transplantation versus non-liver transplantation groups
8. AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry
9. AB036. Cardiac features in Taiwanese patients with mucopolysaccharidosis IVA
10. AB029. Rare condition of hepatic Gaucheroma in a type I Gaucher patient with enzyme replacement therapy
11. AB164. Methylmalonic acidemia/propionic acidemia in Taiwan
12. AB084. Cause of death and clinical characteristics of 34 mortality patients with mucopolysaccharidosis II in Taiwan, 1995-2012
13. AB064. Autosomal recessive diseases caused by a rare mechanism: uniparental disomy
14. AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation
15. AB018. Revisited later-onset cardiac type Fabry disease—cardiac damages progressed in silence—experiences from an extremely high prevalent area, Taiwan
16. AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
17. AB165. Extended follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
18. AB017. The extended newborn screening by tandem mass in Taiwan—results from two national newborn screening centers: Taipei Institute of Pathology & Chinese Foundation of Health
19. AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
20. AB172. High-throughput and cost-effective newborn screening method for female with fabry disease by DNA mass spectrometry in Taiwan
21. AB173. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in a folate deficiency area where has inordinately high homocystinuria prevalence
22. AB066. Pseudohomozygous familial hypercholesterolemia has better outcome than homozygous familial hypercholesterolemia
23. AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.