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List of works by Serena Gasperini

A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

scientific article published on 16 November 2018

Cerebellar tumour-like aggregate of glycosaminoglycans in a MPS IIIB patient: a case report

scientific article published on 21 January 2020

Chronic liver involvement in urea cycle disorders

scientific article published on 25 August 2019

Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency

scientific article published on July 1, 2011

Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III

scientific article

Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick

scientific article published on 01 August 2019

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

scientific article published on 8 February 2018

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

scientific article published on 21 March 2019

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

article

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses

scientific article published on 16 November 2018

New treatments for the mucopolysaccharidoses: from pathophysiology to therapy

scientific article published on 16 November 2018

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders

scientific article published on 09 July 2019

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration

scientific article published on 09 November 2018

Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease

article

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series

scientific article published on 01 August 2019

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