17 results on '"Eminoglu, F. T."'
Search Results
2. MUCOPOLYSACCHARIDOSIS: EFFECTS OF ENZYME-REPLACEMENT THERAPY IN 27 CHILDREN WITH MPS I, II AND VI
3. THE SCANNING OF COMMONLY SEEN MUTATIONS OF GLUCOSE-6-PHOSPHATASE AND GLUCOSE-6-PHOSPHATASE TRANSLOCASE GENES IN GLYCOGEN STORAGE TYPE 1A AND TYPE 1B DISEASE PATIENTS BY THE MICROELECTRONIC ARRAY TECHNOLOGY
4. HYPERCALCAEMIA IN GLYCOGEN STORAGE DISEASE TYPE 1 PATIENTS OF TURKISH ORIGIN
5. Screening for isolated sulfite oxidase/molibden cofactor deficiencies among the pediatric patients with encephalopathy and mental-motor retardation
6. The impact of inherited metabolic diseases on quality of life: A pilot study
7. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide
8. The same novel mutation determined in 2 Hurler-Scheie patients who are the children of different families
9. The neonatal case diagnosed with nonketotic hyperglycinemia with a preliminary diagnosis of the chloralhydrate intoxication
10. Crisponi syndrome due to a novel mutation on the cytokine receptor-like factor I (CRLFI) gene
11. Primary carnitine deficiency due to a novel mutation: Report of two cases
12. The first results of 18 months experience with lysosomal storage disease
13. Investigation of 10 common mutations in Turkish Gaucher patients by use of the nanochip microelectronic array technology
14. Long-term effect of low-density lipoprotein apheresis: Experience in four children with familial homozygous hypercholesterolemia
15. Multisystem involvement: A rare and unusual presentation of GSD type IV
16. 3-Methylcrotonylglycinuria in a family: Late and different clinical presentation
17. Incidence of osteoporosis in a metabolic unit
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.