M. Sibilio

发表

Minimal disease activity in Gaucher disease: criteria for definition.

B. Bembi, M. Cappellini, G. Andria, 2012, Molecular genetics and metabolism.

Hypoglycemia, polycythemia and hyponatremia in a newborn exposed to nebivolol during pregnancy

F. Rossi, A. Capuano, M. Sibilio, 2015, Journal of pharmacology & pharmacotherapeutics.

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

R. Tomanin, G. Sersale, G. Parenti, 2008, Biotechnology and applied biochemistry.

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

G. Limongelli, B. Sarubbi, M. Russo, 2022, Genes.

Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years’follow-up of patients with a wide spectrum of gastrointestinal signs

G. Andria, D. Melis, G. Parenti, 2003 .

Crohn's‐like ileo‐colitis in patients affected by glycogen storage disease Ib: two years’follow‐up of patients with a wide spectrum of gastrointestinal signs

G. Andria, D. Melis, G. Parenti, 2003, Acta paediatrica.

Left Ventricular Diastolic Dysfunction in Type I Gaucher Disease: An Echo Doppler Study

M. Galderisi, F. Lo Iudice, P. Strazzullo, 2015, Echocardiography.

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

D. Cooper, M. Mort, R. Guerrini, 2018, BMC Medical Genetics.

Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.

G. Parenti, M. Grosso, R. Sessa, 2010, Genetic testing and molecular biomarkers.

Diagnostic approach to hypersensitivity reactions to iodinated contrast media: a single-center experience on 98 patients.

M. Sibilio, E. Meucci, A. Radice, 2020, European annals of allergy and clinical immunology.

Brain damage in glycogen storage disease type I.

F. Di Salle, L. Santoro, L. Sequino, 2004, The Journal of pediatrics.

Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

A. Zagari, L. Esposito, F. Salvatore, 2009, The FEBS journal.

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

A. Amorim, L. Diogo, L. Vilarinho, 2010, Journal of Human Genetics.

Crohn-Like Colitis in a Young Boy With Hirschsprung Disease.

M. Sibilio, D. De Brasi, C. Mandato, 2021, Inflammatory Bowel Diseases.

Type a Niemann-Pick Disease

R. Taurisano, M. Sibilio, F. Caranci, 2008 .

Impaired gait kinematics in type 1 Gaucher's Disease.

Pierpaolo Sorrentino, Rosaria Rucco, Pasquale Strazzullo, 2016, Journal of Parkinson's disease.

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

S. Mooney, R. Guerrini, J. Thusberg, 2012, Gene.