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List of works by Guglielmo Rosario Domenico Villani

1-27 of 27 results

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Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.

scientific article
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis.

scientific article published on 3 May 2009
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

scientific article (publication date: 15 April 2000)
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

scientific article published in 2015
Mutations among Italian mucopolysaccharidosis type I patients

scientific article published on 01 November 1997
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

scientific article published on 01 June 2009
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

scientific article published on 01 December 2000
Maternal vitamin B12 deficiency detected in expanded newborn screening

scientific article published on 7 September 2014
Hurler Disease Bone Marrow Stromal Cells Exhibit Altered Ability to Support Osteoclast Formation

scientific article published on 02 March 2012
"Classical organic acidurias": diagnosis and pathogenesis.

scientific article published on 9 September 2016
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer

scientific article
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.

scientific article published on December 2002
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

scientific article published on 01 March 2008
Expression of five iduronate-2-sulfatase site-directed mutations

scientific article published on 01 June 2000
Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells.

scientific article published in September 1993
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

scientific article published on 12 February 2018
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

scientific article published in February 2005
Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

article
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

scientific article published on 01 November 2001
Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.

scientific article published on 15 October 2011
Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.

scientific article published in February 2010
Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation

scientific article published on 01 January 1992
Enhancement of tissue lipoperoxidation in propanil-treated rats

scientific article published on 01 August 1995
Analysis of Sanfilippo A gene mutations in a large pedigree

scientific article (publication date: April 2003)
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl

scientific article published on 01 April 2018
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 01 July 2012
Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino-8-nitropyrene.

scientific article published on February 1991

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