Search

Your search keyword '"Giugliani, Roberto"' showing total 15 results
Start Over Author "Giugliani, Roberto" Journal jornal de pediatria
15 results on '"Giugliani, Roberto"'

8. Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.

Author

Dorfmana, Luiza Emy, Leite, Júlio César L., Giugliani, Roberto, and Riegel, Mariluce

Subjects
NEWBORN infants, HUMAN abnormalities, KARYOTYPES, CHROMOSOME abnormalities, CYTOGENETICS
Abstract

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2015
Full Text
View/download PDF

12. Organic aciduria: diagnosis in high-risk Brazilian patients

Author

Wajner, Moacir, primary, Barschak, Alethéa G., additional, Luft, Ana P., additional, Pires, Ricardo, additional, Grillo, Eugênio, additional, Lohr, Alfredo, additional, Funayama, Carolina, additional, Sanseverino, Maria Teresa, additional, Giugliani, Roberto, additional, and Vargas, Carmen R., additional

Published
2001
Full Text
View/download PDF

15. Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.

Author

Giugliani, Luciana, Sitta, Angela, Vargas, Carmen R., Santana-da-Silva, Luiz C., Nalin, Tatiéle, Saraiva-Pereira, Maria Luiza, Giugliani, Roberto, and Schwartz, Ida Vanessa D.

Subjects
TETRAHYDROBIOPTERIN, PHENYLALANINE hydroxylase, BRAZILIANS, PHENYLKETONURIA, BIOPTERIN, PATIENTS, HEALTH
Abstract

Objective: To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH). Methods: Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age ≥ 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels ≥ 6 mg/dL in all blood tests 1 year before inclusion. Blood samples were obtained the day before (day 1) and at 0, 4, 8 (day 2) and 24 h (day 3) after BH4 intake. Phe levels were measured using tandem mass spectrometry. The criteria used to define responsiveness to BH4 were: criterion 1- Phe reduction ≥ 30% 8 h after BH4 administration; criterion 2 - Phe reduction ≥ 30% 24 h after BH4 administration. Results: Eighteen patients were enrolled (median age, 14 years; 12 boys). Five patients were responsive to BH4, 3 according to both criteria (one classical PKU, two mild PKU); and two according to criterion 2 (one classical PKU; one indefinite PKU type). There were no differences between Phe serum levels on day 1 and at the other time points (p = 0.523). However, Phe levels on days 1 and 2 were significantly different (p = 0.006). The analysis of the phenotype-genotype association confirmed its multifactorial character. Conclusion: A relevant number of Brazilian patients with HPA-PAH are responsive to BH4, in agreement with other studies in the literature. [ABSTRACT FROM AUTHOR]

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results