15 results on '"Giugliani, Roberto"'
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2. Genetics: an essential tool for the pediatrician of the 21st century
3. Treatment of inborn errors of metabolism
4. Genética: uma ferramenta indispensável para o pediatra do século XXI
5. Tratamento de erros inatos do metabolismo
6. Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça
7. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength
8. Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances.
9. Prospective study of 11 Brazilian patients with mucopolysaccharidosis II
10. Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II
11. Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil
12. Organic aciduria: diagnosis in high-risk Brazilian patients
13. Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children
14. Management of a case of maple syrup urine disease - the use of gluco-insulinotherapy
15. Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency.
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