V. Gragnaniello

发表

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

L. Salviati, A. Burlina, G. Polo, 2020, International journal of neonatal screening.

Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience

L. Salviati, A. Burlina, G. Polo, 2021, Biomolecules.

Newborn screening of mucopolysaccharidosis type I

A. Burlina, V. Gragnaniello, 2022, Critical reviews in clinical laboratory sciences.

A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature

A. Burlina, S. Zanconato, S. Carraro, 2022, Molecular genetics and metabolism reports.

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

A. Burlina, G. Parenti, P. Strisciuglio, 2022, Italian Journal of Pediatrics.

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

V. Gragnaniello, Mariangela Martino, A. Burlina, 2022, Frontiers in Pediatrics.

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

L. Salviati, A. Burlina, G. Polo, 2022, Molecular genetics and metabolism reports.

Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa

G. Parenti, G. Spadaro, S. Fecarotta, 2019, Neurological Sciences.

Deficiency of 5'-deoxy-5'-methylthioadenosine phosphorylase activity in malignancy. Absence of the protein in human enzyme-deficient cell lines.

F. Della Ragione, V. Zappia, R. Palumbo, 1992, The Biochemical journal.

Bone disease in early detected Gaucher Type I disease: A case report

R. Manara, E. Quaia, A. Burlina, 2022, JIMD reports.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

A. Angeloni, I. Bucci, C. Dionisi-Vici, 2022, International journal of neonatal screening.

Increased methyl esterification of membrane proteins in aged red-blood cells. Preferential esterification of ankyrin and band-4.1 cytoskeletal proteins.

A. Nappi, A. Iolascon, D. Ingrosso, 1983, European journal of biochemistry.

Chromatographic and radioimmunological methods for the determination of 5'-deoxy-5'-methylthioadenosine in biological fluids.

F. Della Ragione, V. Zappia, V. Gragnaniello, 1988, Journal of chromatography.

Detection of 3-o-methyldopa in dried blood spots for neonatal diagnosis of aromatic l-amino-acid decarboxylase deficiency: the North-eastern Italian experience.

N. Blau, G. Hoffmann, G. Polo, 2021, Molecular genetics and metabolism.

Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation

N. Vitturi, A. Maiorana, Evelina Maines, 2023, Metabolites.

Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient

L. Salviati, A. Burlina, Evelina Maines, 2023, Journal of clinical medicine.

Human 5'-deoxy-5'-methylthioadenosine phosphorylase: kinetic studies and catalytic mechanism.

F. Della Ragione, V. Zappia, M. Cartenì-Farina, 1988, Advances in experimental medicine and biology.

Physicochemical and immunological studies on mammalian 5'-deoxy-5'-methylthioadenosine phosphorylase.

F. Della Ragione, V. Zappia, R. Palumbo, 1990, Journal of Biological Chemistry.

Purification and characterization of 5'-deoxy-5'-methylthioadenosine phosphorylase from human placenta.

F. Della Ragione, V. Zappia, M. Cartenì-Farina, 1986, The Journal of biological chemistry.

Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report

G. Andria, G. Parenti, P. Strisciuglio, 2018, Neuromuscular Disorders.

Newborn Screening for Fabry Disease: Current Status of Knowledge

M. Stornaiuolo, A. Burlina, A. Burlina, 2023, International journal of neonatal screening.

Long‐term follow‐up of a patient with neonatal form of Gaucher disease

L. Salviati, A. Burlina, A. Burlina, 2023, American journal of medical genetics. Part A.

Effects of antiepileptic therapy on bone mineral status evaluated by phalangeal quantitative ultrasound in pediatric patients with epilepsy and motor impairment.

E. Del Giudice, A. Esposito, A. del Puente, 2019, Minerva Pediatrica.

Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

L. Salviati, V. Gragnaniello, D. Gueraldi, 2023, Orphanet Journal of Rare Diseases.

Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?

F. Deodato, Evelina Maines, V. Gragnaniello, 2022, Journal of clinical lipidology.