Bruni S - Search Results

1

Nutrition in adult patients with selected lysosomal storage diseases.

Carubbi F, Barbato A, Burlina AB, Francini F, Mignani R, Pegoraro E, Landini L, De Danieli G, Bruni S, Strazzullo P; Italian Society of Human Nutrition Working Group on Nutrition in Lysosomal Storage Diseases. Carubbi F, et al. Among authors: bruni s. Nutr Metab Cardiovasc Dis. 2021 Mar 10;31(3):733-744. doi: 10.1016/j.numecd.2020.11.028. Epub 2020 Dec 9. Nutr Metab Cardiovasc Dis. 2021. PMID: 33589321 Review.

2

Update on treatment of lysosomal storage diseases.

Bruni S, Loschi L, Incerti C, Gabrielli O, Coppa GV. Bruni S, et al. Acta Myol. 2007 Jul;26(1):87-92. Acta Myol. 2007. PMID: 17915580 Free PMC article. Review.

3

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.

Gabrielli O, Clarke LA, Bruni S, Coppa GV. Gabrielli O, et al. Among authors: bruni s. Pediatrics. 2010 Jan;125(1):e183-7. doi: 10.1542/peds.2009-1728. Epub 2009 Dec 21. Pediatrics. 2010. PMID: 20026495

4

Characterization of oligosaccharides in milk and feces of breast-fed infants by high-performance anion-exchange chromatography.

Coppa GV, Pierani P, Zampini L, Bruni S, Carloni I, Gabrielli O. Coppa GV, et al. Among authors: bruni s. Adv Exp Med Biol. 2001;501:307-14. doi: 10.1007/978-1-4615-1371-1_38. Adv Exp Med Biol. 2001. PMID: 11787695

5

Prebiotics in infant formulas: biochemical characterisation by thin layer chromatography and high performance anion exchange chromatography.

Coppa GV, Bruni S, Zampini L, Galeazzi T, Gabrielli O. Coppa GV, et al. Among authors: bruni s. Dig Liver Dis. 2002 Sep;34 Suppl 2:S124-8. doi: 10.1016/s1590-8658(02)80179-7. Dig Liver Dis. 2002. PMID: 12408455

6

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P. Gabrielli O, et al. Among authors: bruni s. Am J Med Genet A. 2005 Feb 15;133A(1):85-9. doi: 10.1002/ajmg.a.30552. Am J Med Genet A. 2005. PMID: 15637719

7

White-matter alterations and callosal abnormalities in syndromic patients with mental retardation.

Gabrielli O, Bruni S, Coppa GV, Carloni I, Polonara G, Regnicolo L, Salvolini S, Salvolini U. Gabrielli O, et al. Among authors: bruni s. J Child Neurol. 2002 Mar;17(3):164-8. doi: 10.1177/088307380201700302. J Child Neurol. 2002. PMID: 12026229

8

The first prebiotics in humans: human milk oligosaccharides.

Coppa GV, Bruni S, Morelli L, Soldi S, Gabrielli O. Coppa GV, et al. Among authors: bruni s. J Clin Gastroenterol. 2004 Jul;38(6 Suppl):S80-3. doi: 10.1097/01.mcg.0000128926.14285.25. J Clin Gastroenterol. 2004. PMID: 15220665 Review.

9

Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome.

Cimaz R, Vijay S, Haase C, Coppa GV, Bruni S, Wraith E, Guffon N. Cimaz R, et al. Among authors: bruni s. Clin Exp Rheumatol. 2006 Mar-Apr;24(2):196-202. Clin Exp Rheumatol. 2006. PMID: 16762159

10

Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement.

Gabrielli O, Bruni S, Bruschi B, Carloni I, Coppa GV. Gabrielli O, et al. Among authors: bruni s. Clin Dysmorphol. 2002 Jan;11(1):71-2. doi: 10.1097/00019605-200201000-00015. Clin Dysmorphol. 2002. PMID: 11822710 No abstract available.

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