DiStefano A - Search Results

1

Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.

Bonioli E, DiStefano A, Palmieri A, Bertola A, Bellini C, Caruso U, Fantasia AR, Minniti G, Dorche C. Bonioli E, et al. Among authors: distefano a. J Inherit Metab Dis. 1996;19(5):700-1. doi: 10.1007/BF01799850. J Inherit Metab Dis. 1996. PMID: 8892030 No abstract available.

2

Fumarate hydratase deficiency.

Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. Bonioli E, et al. J Inherit Metab Dis. 1998 Jun;21(4):435-6. doi: 10.1023/a:1005379330187. J Inherit Metab Dis. 1998. PMID: 9700607 No abstract available.

3

Asymptomatic intracranial hypertension associated with tetracycline use.

Bonioli E, Bellini C, Di Stefano A. Bonioli E, et al. Pediatr Infect Dis J. 1999 Sep;18(9):837. doi: 10.1097/00006454-199909000-00022. Pediatr Infect Dis J. 1999. PMID: 10493352 No abstract available.

4

[Follicular cysts of the mandible. The diagnostic problems].

Pesce MA, Bellini C, Di Stefano A, Bellagamba O, Palmieri A, Bonioli E. Pesce MA, et al. Minerva Pediatr. 1992 Mar;44(3):121-4. Minerva Pediatr. 1992. PMID: 1518493 Italian.

5

Sebaceous nevus syndrome: report of two cases.

Bonioli EV, Bertola A, Di Stefano A, Bellini C. Bonioli EV, et al. Pediatr Neurol. 1997 Jul;17(1):77-9. doi: 10.1016/s0887-8994(97)80672-8. Pediatr Neurol. 1997. PMID: 9308983

6

Normal polymorphonuclear neutrophil function in a case of glycogen storage disease type Ib.

Bonioli E, Bellini C, Di Stefano A, Costa A, Canini S, Patrone F. Bonioli E, et al. Eur J Pediatr. 1990 Jun;149(9):665-6. doi: 10.1007/BF02034760. Eur J Pediatr. 1990. PMID: 2373123 No abstract available.

7

Partial agenesis of corpus callosum in LEOPARD syndrome.

Bonioli E, Di Stefano A, Costabel S, Bellini C. Bonioli E, et al. Int J Dermatol. 1999 Nov;38(11):855-62. doi: 10.1046/j.1365-4362.1999.00834.x. Int J Dermatol. 1999. PMID: 10583620 No abstract available.

8

Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia.

Bonioli E, Hennekam RC, Spena G, Morcaldi G, Di Stefano A, Serra G, Bellini C. Bonioli E, et al. Am J Med Genet A. 2005 Jan 15;132A(2):202-5. doi: 10.1002/ajmg.a.30448. Am J Med Genet A. 2005. PMID: 15578573

9

Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome.

Bonioli E, Bellini C, Di Stefano A. Bonioli E, et al. Am J Med Genet. 1989 Jul;33(3):420-1. doi: 10.1002/ajmg.1320330327. Am J Med Genet. 1989. PMID: 2801779 No abstract available.

10

[Clinical picture of multiple abnormalities in a patient with a 49, XXXXY pattern].

Berio A, Bonioli E, Di Stefano A, Olivo F, Vianello MG. Berio A, et al. Minerva Pediatr. 1977 Sep 22;29(29):1785-92. Minerva Pediatr. 1977. PMID: 927398 Italian. No abstract available.

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