4 Result(s)
within
Chiara Di Bella
Pediatric Surgery
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Article
Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations
We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations.
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Article
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease
The original version of this Article erroneously cropped part of the abstract. The abstract has now been corrected to read ‘Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease char...
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Article
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in...
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Article
Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies
Angiotensin I–converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT)....
