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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Maja Di Rocco

Unit of Rare Diseases

II Pediatric Division

Gaslini Institute

Largo Gaslini 5

Italy

[email]@ospedale-gaslini.ge.it

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Unit of Rare Diseases, II Pediatric Division, Gaslini Institute, Largo Gaslini 5, Italy. 2007 - 2008
  • II Pediatric Unit Gaslini Institute Genoa, Italy. 2001 - 2007
  • Istituto G. Gaslini, Pediatria II, Largo G Gaslini, Genova, Italy. 2000 - 2004
  • Second Unit of Pediatrics, Istituto G. Gaslini, Genoa, Italy. 2003

References

  1. Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Di Rocco, M., Calevo, M.G., Taro', M., Melis, D., Allegri, A.E., Parenti, G. Mol. Genet. Metab. (2008) [Pubmed]
  2. A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Di Rocco, M., Giona, F., Carubbi, F., Linari, S., Minichilli, F., Brady, R.O., Mariani, G., Cappellini, M.D. Haematologica (2008) [Pubmed]
  3. Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. Di Rocco, M., Fantasia, A.R., Taro, M., Loy, A., Forlino, A., Martini, A. J. Inherit. Metab. Dis. (2007) [Pubmed]
  4. Glycogen storage disease type II: clinical overview. Di Rocco, M., Buzzi, D., Tarò, M. Acta. Myol (2007) [Pubmed]
  5. A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Di Rocco, M., Caruso, U., Briem, E., Rossi, A., Allegri, A.E., Buzzi, D., Tiranti, V. Mol. Genet. Metab. (2006) [Pubmed]
  6. Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature. Di Rocco, M., Hennet, T., Grubenmann, C.E., Pagliardini, S., Allegri, A.E., Frank, C.G., Aebi, M., Vignola, S., Jaeken, J. J. Inherit. Metab. Dis. (2005) [Pubmed]
  7. Genetic disorders affecting white matter in the pediatric age. Di Rocco, M., Biancheri, R., Rossi, A., Filocamo, M., Tortori-Donati, P. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2004) [Pubmed]
  8. MRI in acute intermittent maple syrup urine disease. Di Rocco, M., Biancheri, R., Rossi, A., Allegri, A.E., Vecchi, V., Tortori-Donati, P. Neurology (2004) [Pubmed]
  9. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Di Rocco, M., Stella, G., Bruno, C., Doria Lamba, L., Bado, M., Superti-Furga, A. Am. J. Med. Genet. A (2003) [Pubmed]
  10. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D. Di Rocco, M., Caruso, U., Waterham, H.R., Picco, P., Loy, A., Wanders, R.J. J. Inherit. Metab. Dis. (2001) [Pubmed]
  11. Osteopetrorickets: case report. Di Rocco, M., Buoncompagni, A., Loy, A., Dellacqua, A. Eur. J. Pediatr. (2000) [Pubmed]
 
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