M. DiRocco - Concepedia

Author

M. DiRocco

Istituto Giannina Gaslini

Also Known As

M DIROCCO, M DiRocco, M. DiRocco, Maja DiRocco, Maja Dirocco

Publications

634

Citations

H-Index

Concepts

All Affiliations

Istituto Giannina Gaslini Columbia University Istituti di Ricovero e Cura a Carattere Scientifico

About

M. DiRocco is an author at Istituto Giannina Gaslini specializing in medicine, neuropathology, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	159
2	Neurology	2	2	61
3	Health Sciences	1	1	45
4	Nephrology	1	1	61
5	Neuroscience	1	1	45

M. DiRocco

Publications

624

Citations

H-Index

Page 1

	Year	Citations
Cytochrome <i>c</i> oxidase deficiency in leigh syndrome Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Annals of Neurology	1987	363
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance M. DiRocco, Giacomo Garibotto, G.A. Rossi, European Journal of Pediatrics Renal ComplicationsLysinuric Protein IntoleranceMedicineKidney FailureSepsis	1993	61
Enhancing Cranial Nerves and Cauda Equina: An Emerging Magnetic Resonance Imaging Pattern in Metachromatic Leukodystrophy and Krabbe Disease Giovanni Morana, Roberta Biancheri, M. DiRocco, Neuropediatrics Contrast AgentsNeurological DisorderCranial NervesMagnetic ResonanceBrain Lesion	2009	45
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1 Priya S. Kishnani, M. DiRocco, Paige Kaplan, Molecular Genetics and Metabolism Adult PatientsMaintenance TherapySubstrate Reduction TherapyRandomized TrialMedicine	2009	37
Prenatal diagnosis of Sjögren‐Larsson syndrome using enzymatic methods William B. Rizzo, Debra A. Craft, Todd L. Kelson, Prenatal Diagnosis	1994	31
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy Claudio Bruno, M. DiRocco, L. Doria Lamba, Neuromuscular Disorders	1999	27
Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type Ia Marina Stroppiano, Stefano Regis, M. DiRocco, Journal of Inherited Metabolic Disease	1999	26
<i>ASAH1</i> pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy Sarah H. Elsea, Alexander Sólyom, Kirt Martin, Human Mutation	2020	18
Neuroimaging Findings in Malignant Infantile Osteopetrosis due to OSTM1 Mutations Domenico Chiodo, M. DiRocco, Carlo Gandolfo, Neuropediatrics Malignant Infantile OsteopetrosisBone ResorptionNeurological DisorderOstm1 MutationsNeurology	2007	16

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