Michelina Sibilio - Concepedia

Author

Michelina Sibilio

University of Naples Federico II ORCID

Also Known As

M Sibilio, M. Sibilio, Michela Sibilio, Michelina SIBILIO, Michelina Sibilio, Sibilio M, Sibilio, Michelina

Publications

534

Citations

H-Index

Concepts

All Affiliations

University of Naples Federico II Federico II University Hospital Azienda Ospedaliera San Gerardo Meyer Children's Hospital Bambino Gesù Children's Hospital

About

Michelina Sibilio is an author at University of Naples Federico II specializing in medicine, pathology, and inherited metabolic disease.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	392
2	Health Sciences	1	1	11
3	Natural Sciences	1	1	32
4	Biochemistry	1	1	32
5	Cell Biology	1	1	19

Michelina Sibilio

Publications

505

Citations

H-Index

Page 1

	Year	Citations
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease GeneticsGenetic EpidemiologyImmunologyPathologyMorquio B Disease	2011	151
Brain damage in glycogen storage disease type I Daniela Melis, Giancarlo Parenti, Roberto Della Casa, The Journal of Pediatrics Alzheimer's DiseaseBrain DamageDegenerative DiseaseFrontotemporal DementiaBrain Injury	2004	48
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 Daniela Melis, Giancarlo Parenti, Roberto Della Casa, Acta Paediatrica	2003	42
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (<i>GNPTG</i>) gene in patients with mucolipidosis III gamma Emanuele Persichetti, Nadia Chuzhanova, Andrea Dardis, Human Mutation GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomics	2008	36
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 Daniela Melis, Giancarlo Parenti, Roberto Della Casa, Acta Paediatrica Functional Gastrointestinal DisorderBowel InvolvementGastroenterologyDiagnosisPathology	2003	35
Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort Silvia Funghini, Janita Thusberg, Marco Spada, Gene Heterogeneous CohortMendelian DisorderGenetic DisorderGeneticsInherited Metabolic Disease	2011	34
Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy Aurora Daniele, Iris Scala, Giuseppe Cardillo, FEBS Journal Mendelian DisorderBiochemistryGenetic DisorderNatural SciencesGenetics	2009	32
Impaired gait kinematics in type 1 Gaucher’s Disease Pierpaolo Sorrentino, Antonio Barbato, Luigi Del Gaudio, Journal of Parkinson s Disease	2016	29
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation Michele Lioncino, Adelaide Fusco, Emanuele Monda, Genes Translational MedicineHeart FailureOncologyCardiomyopathySos1 Mutation	2022	26
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease Anna Caciotti, Rodolfo Tonin, Matthew Mort, BMC Medical Genetics	2018	20

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