Parenti G - Search Results

1

Growth hormone deficiency in a patient with lysinuric protein intolerance.

Esposito V, Lettiero T, Fecarotta S, Sebastio G, Parenti G, Salerno M. Esposito V, et al. Among authors: parenti g. Eur J Pediatr. 2006 Nov;165(11):763-6. doi: 10.1007/s00431-006-0170-8. Epub 2006 Jun 15. Eur J Pediatr. 2006. PMID: 16775724

2

Evidence of polyglandular involvement in Niemann-Pick disease type B.

Strisciuglio P, Di Maio S, Parenti G, Franzese A, Lubrano P, Mariano A, Andria G. Strisciuglio P, et al. Among authors: parenti g. Eur J Pediatr. 1987 Jul;146(4):431-3. doi: 10.1007/BF00444957. Eur J Pediatr. 1987. PMID: 2820735

3

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Ballabio A, et al. Among authors: parenti g. Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422. Hum Genet. 1987. PMID: 3480263

4

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.

Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, Andria G. Parenti G, et al. J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x. J Pediatr. 1995. PMID: 7844671 Review.

5

Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods.

Santamaria F, Parenti G, Guidi G, Rotondo A, Grillo G, Larocca MR, Celentano L, Strisciuglio P, Sebastio G, Andria G. Santamaria F, et al. Among authors: parenti g. Am J Respir Crit Care Med. 1996 Feb;153(2):731-5. doi: 10.1164/ajrccm.153.2.8564125. Am J Respir Crit Care Med. 1996. PMID: 8564125

6

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G. Guzzetta V, et al. Among authors: parenti g. J Inherit Metab Dis. 1997 Sep;20(5):619-24. doi: 10.1023/a:1005315106604. J Inherit Metab Dis. 1997. PMID: 9323556

7

Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form.

Titomanlio L, Della Casa R, Lecora M, Farina V, Sebastio G, Andria G, Parenti G. Titomanlio L, et al. Among authors: parenti g. Am J Med Genet. 1999 Sep 3;86(1):82-5. Am J Med Genet. 1999. PMID: 10440835

8

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. De Brasi D, et al. Among authors: parenti g. Eur J Hum Genet. 1999 Dec;7(8):937-40. doi: 10.1038/sj.ejhg.5200390. Eur J Hum Genet. 1999. PMID: 10602371

9

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Sperandeo MP, et al. Among authors: parenti g. Am J Hum Genet. 2000 Jan;66(1):92-9. doi: 10.1086/302700. Am J Hum Genet. 2000. PMID: 10631139 Free PMC article.

10

Brain damage in glycogen storage disease type I.

Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G. Melis D, et al. Among authors: parenti g. J Pediatr. 2004 May;144(5):637-42. doi: 10.1016/j.jpeds.2004.02.033. J Pediatr. 2004. PMID: 15127000

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