17 results on '"Zuppi, Cecilia"'
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2. Simultaneous quantification of 17-hydroxyprogesterone, androstenedione, testosterone and cortisol in human serum by LC-MS/MS using TurboFlow online sample extraction
3. Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database
4. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients
5. Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations
6. Anorexia and Plasma Levels of Free Tryptophan, Branched Chain Amino Acids, and Ghrelin in Hemodialysis Patients
7. Association of periodontitis with GSTM1/GSTT1-null variants—A pilot study
8. Parathyroidectomy monitored by intra-operative PTH: The relevance of the 20 min end-point
9. Slight association between type 1 diabetes and “ ff” VDR FokI genotype in patients from the Italian Lazio Region. Lack of association with diabetes complications
10. Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients
11. Glucose-6-phosphate dehydrogenase Buenos Aires: A novel de novo missense mutation associated with severe enzyme deficiency
12. Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency
13. Role of fecal calprotectin as biomarker of gastrointestinal GVHD after allogeneic stem cell transplantation
14. Phenotype heterogeneity of hyperbilirubinemia condition: The lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler–Najjar Syndrome type II in an Italian patient
15. Angiotensin-Conversing Enzyme I/D Polymorphism is Associated With Significantly Different Values of Hepatic Venous Pressure Gradient in Patients With Liver Cirrhosis
16. How the “A” to “C” conversion may create a new splice acceptor site?
17. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
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