List of works - Guglielmo Rosario Domenico Villani

"Classical organic acidurias": diagnosis and pathogenesis.

scientific article published on 9 September 2016

A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 01 July 2012

An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene.

scientific article published in February 2005

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

Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer

scientific article

Effect of avarol and avarone on in vitro-induced microsomal lipid peroxidation

scientific article published on 01 January 1992

Effect of rat liver cytosolic enzymes and cofactors on mutagenicity of 1-amino-8-nitropyrene.

scientific article published on February 1991

Enhancement of tissue lipoperoxidation in propanil-treated rats

scientific article published on 01 August 1995

Expression of five iduronate-2-sulfatase site-directed mutations

scientific article published on 01 June 2000

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

scientific article

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

scientific article (publication date: 15 April 2000)

Hurler Disease Bone Marrow Stromal Cells Exhibit Altered Ability to Support Osteoclast Formation

scientific article published on 02 March 2012

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

scientific article published on 12 February 2018

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

scientific article published on 01 June 2009

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

Maternal vitamin B12 deficiency detected in expanded newborn screening

scientific article published on 7 September 2014

Molecular analysis of DNA adducts and hprt mutations produced by 6-nitrosochrysene in Chinese hamster ovary cells.

scientific article published in September 1993

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

scientific article published on 01 December 2000

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease

scientific article published on 01 March 2008

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

scientific article published on 3 May 2009

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

article

Mutations among Italian mucopolysaccharidosis type I patients

scientific article published on 01 November 1997

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

scientific article published in 2015

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

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

scientific article published on December 2002

List of works by Guglielmo Rosario Domenico Villani