Daniela Antuzzi

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 13 publications

The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO).

The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO).

Journal: Journal of clinical medicine

Published: September 22, 2021

Morquio B disease: From pathophysiology towards diagnosis.

Morquio B disease: From pathophysiology towards diagnosis.

Journal: Molecular genetics and metabolism

Published: November 12, 2020

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: January 22, 2018

Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin.

Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin.

Journal: European journal of case reports in internal medicine

Published: May 27, 2017

Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.

Extensive irregular Mongolian blue spots as a clue for GM1 gangliosidosis type 1.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: January 15, 2016

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

Journal: European journal of internal medicine

Published: November 18, 2015

Clinical use of plasma chitotriosidase in severe sepsis.

Clinical use of plasma chitotriosidase in severe sepsis.

Journal: Current medical research and opinion

Published: November 10, 2015

Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.

Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.

Journal: Clinical and experimental obstetrics & gynecology

Published: April 14, 2015

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Journal: Human mutation

Published: September 15, 2014

Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.

Journal: Cytokine

Published: October 08, 2012

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Journal: Clinical genetics

Published: July 04, 2012

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.

Journal: The British journal of dermatology

Published: March 29, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026