Sebastio 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: sebastio 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

Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.

Santamaria F, Brancaccio G, Parenti G, Francalanci P, Squitieri C, Sebastio G, Dionisi-Vici C, D'argenio P, Andria G, Parisi F. Santamaria F, et al. Among authors: sebastio g. J Pediatr. 2004 Aug;145(2):268-72. doi: 10.1016/j.jpeds.2004.04.047. J Pediatr. 2004. PMID: 15289783

3

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. Among authors: sebastio g. J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x. J Pediatr. 1995. PMID: 7844671 Review.

4

Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.

Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G, Sebastio G, Colao A, Andria G. Melis D, et al. Among authors: sebastio g. J Pediatr. 2007 Mar;150(3):300-5, 305.e1. doi: 10.1016/j.jpeds.2006.11.056. J Pediatr. 2007. PMID: 17307551

5

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: sebastio 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.

6

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: sebastio 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

7

A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.

Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Eur J Hum Genet. 2005 May;13(5):628-34. doi: 10.1038/sj.ejhg.5201376. Eur J Hum Genet. 2005. PMID: 15756301

8

Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.

Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Am J Physiol Cell Physiol. 2007 Jul;293(1):C191-8. doi: 10.1152/ajpcell.00583.2006. Epub 2007 Mar 21. Am J Physiol Cell Physiol. 2007. PMID: 17376816 Free article.

9

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: sebastio g. Am J Med Genet. 1999 Sep 3;86(1):82-5. Am J Med Genet. 1999. PMID: 10440835

10

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report.

Sperandeo MP, Buoninconti A, Passariello A, Scala I, Adami A, Lauteala T, Mykkänen J, Andria G, Sebastio G. Sperandeo MP, et al. Among authors: sebastio g. Prenat Diagn. 1999 Aug;19(8):771-3. Prenat Diagn. 1999. PMID: 10451527

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