Sabetta G - Search Results

1

Aldolase B mutations in Italian families affected by hereditary fructose intolerance.

Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM. Sebastio G, et al. Among authors: sabetta g. J Med Genet. 1991 Apr;28(4):241-3. doi: 10.1136/jmg.28.4.241. J Med Genet. 1991. PMID: 1856829 Free PMC article.

2

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzoni G, Cotugno G, Martini Neri ME. Genuardi M, et al. Among authors: sabetta g. Am J Med Genet. 1993 Aug 1;47(1):50-3. doi: 10.1002/ajmg.1320470111. Am J Med Genet. 1993. PMID: 8368252

3

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.

Dionisi Vici C, Sabetta G, Gambarara M, Vigevano F, Bertini E, Boldrini R, Parisi SG, Quinti I, Aiuti F, Fiorilli M. Dionisi Vici C, et al. Among authors: sabetta g. Am J Med Genet. 1988 Jan;29(1):1-8. doi: 10.1002/ajmg.1320290102. Am J Med Genet. 1988. PMID: 3344762

4

Laryngeal stridor as a leading symptom in a biotinidase-deficient patient.

Dionisi-Vici C, Bachmann C, Graziani MC, Sabetta G. Dionisi-Vici C, et al. Among authors: sabetta g. J Inherit Metab Dis. 1988;11(3):312-3. doi: 10.1007/BF01800381. J Inherit Metab Dis. 1988. PMID: 3148078 No abstract available.

5

Early introduction of uncooked cornstarch for the treatment of glycogen storage disease type I.

Dionisi Vici C, Bartuli A, Mazziotta MR, Sabetta G. Dionisi Vici C, et al. Among authors: sabetta g. Acta Paediatr Scand. 1990 Oct;79(10):978-9. doi: 10.1111/j.1651-2227.1990.tb11366.x. Acta Paediatr Scand. 1990. PMID: 2264476 Clinical Trial. No abstract available.

6

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.

Dionisi Vici C, Bachmann C, Gambarara M, Colombo JP, Sabetta G. Dionisi Vici C, et al. Among authors: sabetta g. Pediatr Res. 1987 Sep;22(3):364-7. doi: 10.1203/00006450-198709000-00025. Pediatr Res. 1987. PMID: 3116497

7

Hypoparathyroidism in mitochondrial trifunctional protein deficiency.

Dionisi-Vici C, Garavaglia B, Burlina AB, Bertini E, Saponara I, Sabetta G, Taroni F. Dionisi-Vici C, et al. Among authors: sabetta g. J Pediatr. 1996 Jul;129(1):159-62. doi: 10.1016/s0022-3476(96)70206-8. J Pediatr. 1996. PMID: 8757579

8

Acute pancreatitis in propionic acidaemia.

Burlina AB, Dionisi-Vici C, Piovan S, Saponara I, Bartuli A, Sabetta G, Zacchello F. Burlina AB, et al. Among authors: sabetta g. J Inherit Metab Dis. 1995;18(2):169-72. doi: 10.1007/BF00711758. J Inherit Metab Dis. 1995. PMID: 7564238 No abstract available.

9

Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, Abeni D. Dionisi-Vici C, et al. Among authors: sabetta g. J Pediatr. 2002 Mar;140(3):321-7. doi: 10.1067/mpd.2002.122394. J Pediatr. 2002. PMID: 11953730

10

Intravenous immune globulin in lysinuric protein intolerance.

Dionisi-Vici C, De Felice L, el Hachem M, Bottero S, Rizzo C, Paoloni A, Goffredo B, Sabetta G, Caniglia M. Dionisi-Vici C, et al. Among authors: sabetta g. J Inherit Metab Dis. 1998 Apr;21(2):95-102. doi: 10.1023/a:1005383307100. J Inherit Metab Dis. 1998. PMID: 9584260

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