Search filters

List of works by Giancarlo Parenti

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

scientific article published on 23 July 2014

A novel mutation of the β‐glucocererebrosidase gene associated with neurologic manifestations in three sibs ⬇️

scientific article published on 01 April 1998

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases

scientific article published on October 1, 1992

Echo-Doppler abnormalities in mucopolysaccharide storage diseases

scientific article published on 01 September 1992

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

scientific article published on 15 May 2020

Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature ⬇️

scientific article published on August 11, 2012

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

scientific article

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

scientific article

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

scientific article

Lysosomal storage diseases: from pathophysiology to therapy.

scientific article

Pompe Disease: From New Views on Pathophysiology to Innovative Therapeutic Strategies ⬇️

scientific article published on June 1, 2011

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

scientific article published on 29 January 2015

The sulfatase gene family ⬇️

scientific article published on June 1, 1997

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat ⬇️

scientific article published on February 22, 2011

Universal screening for inherited metabolic diseases in the neonate (and the fetus) ⬇️

scientific article published on October 1, 2012

Paulina is supported by:

About Paulina

Help