Maja Di Rocco

Summary

Affiliation: G. Gaslini Institute
Country: Italy

Publications

  1. ncbi request reprint Osteopetrorickets: case report
    M Di Rocco
    Istituto G Gaslini, Pediatria II, Largo G Gaslini, Genova, Italy
    Eur J Pediatr 159:579-81. 2000
  2. ncbi request reprint Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency
    M Di Rocco
    2nd Division of Pediatrics, University of Genoa, G Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy
    J Inherit Metab Dis 30:814. 2007
  3. ncbi request reprint Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
    Maja Di Rocco
    Unit of Rare Diseases, II Pediatric Division, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    Mol Genet Metab 93:398-402. 2008
  4. pmc Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
    Alessandro Di Rocco
    New York University School of Medicine, New York, NY, USA
    BMC Neurol 13:43. 2013
  5. doi request reprint Minimal disease activity in Gaucher disease: criteria for definition
    Maja Di Rocco
    Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy
    Mol Genet Metab 107:521-5. 2012
  6. doi request reprint Early miglustat therapy in infantile Niemann-Pick disease type C
    Maja Di Rocco
    Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy
    Pediatr Neurol 47:40-3. 2012
  7. pmc Glycogen storage disease type II: clinical overview
    M Di Rocco
    II Pediatrc Unit, Istituto Giannina Gaslini, Genova, Italy
    Acta Myol 26:42-4. 2007
  8. doi request reprint A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
    Maja Di Rocco
    Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genova, Italy
    Haematologica 93:1211-8. 2008
  9. ncbi request reprint A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
    Maja Di Rocco
    II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    Mol Genet Metab 89:395-7. 2006
  10. ncbi request reprint Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature
    M Di Rocco
    II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    J Inherit Metab Dis 28:1162-4. 2005

Detail Information

Publications44

  1. ncbi request reprint Osteopetrorickets: case report
    M Di Rocco
    Istituto G Gaslini, Pediatria II, Largo G Gaslini, Genova, Italy
    Eur J Pediatr 159:579-81. 2000
    ..Rickets is a paradoxical feature of osteopetrosis resulting from inability to maintain a normal calcium-phosphorus balance. In our patient the onset of rickets before other symptoms of osteopetrosis suggests a primary defect...
  2. ncbi request reprint Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency
    M Di Rocco
    2nd Division of Pediatrics, University of Genoa, G Gaslini Institute, Largo Gaslini 5, 16147, Genoa, Italy
    J Inherit Metab Dis 30:814. 2007
    ....
  3. ncbi request reprint Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
    Maja Di Rocco
    Unit of Rare Diseases, II Pediatric Division, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    Mol Genet Metab 93:398-402. 2008
    ..In conclusion, we were unable to identify any significant differences in metabolic balance between GSD I patients who developed adenomas and those who did not...
  4. pmc Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
    Alessandro Di Rocco
    New York University School of Medicine, New York, NY, USA
    BMC Neurol 13:43. 2013
    ..There are however no specific guidelines for the treatment of the seizures and it is unknown whether drugs that affect the GABAergic system have a different effect in IDIC-15 seizures...
  5. doi request reprint Minimal disease activity in Gaucher disease: criteria for definition
    Maja Di Rocco
    Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy
    Mol Genet Metab 107:521-5. 2012
    ..Our goal in defining minimal disease activity and stability is to identify a tool to facilitate treatment decisions in clinical practice...
  6. doi request reprint Early miglustat therapy in infantile Niemann-Pick disease type C
    Maja Di Rocco
    Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy
    Pediatr Neurol 47:40-3. 2012
    ..These findings suggest that miglustat may be more effective if used to prevent, rather than treat, neurologic manifestations in infantile-onset Niemann-Pick type C...
  7. pmc Glycogen storage disease type II: clinical overview
    M Di Rocco
    II Pediatrc Unit, Istituto Giannina Gaslini, Genova, Italy
    Acta Myol 26:42-4. 2007
    ..As for other treatable lysosomal diseases, the advent of enzyme replacement therapy will change the natural history of this disease and also will increase our knowledge concerning clinical heterogeneity...
  8. doi request reprint A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
    Maja Di Rocco
    Rare Disease Unit, II Division of Pediatrics, Gaslini Institute, Genova, Italy
    Haematologica 93:1211-8. 2008
    ..This variability in clinical response justifies the development of a severity score index to assess disease activity, stage and prognosis, and to quantify the effects of treatment...
  9. ncbi request reprint A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation
    Maja Di Rocco
    II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    Mol Genet Metab 89:395-7. 2006
    ..This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease...
  10. ncbi request reprint Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature
    M Di Rocco
    II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy
    J Inherit Metab Dis 28:1162-4. 2005
    ....
  11. ncbi request reprint MRI in acute intermittent maple syrup urine disease
    M Di Rocco
    II Pediatria, Istituto Gaslini, Largo Gaslini 5, 16147 Genova, Italy
    Neurology 63:1078. 2004
  12. ncbi request reprint Genetic disorders affecting white matter in the pediatric age
    Maja Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genova, Italy
    Am J Med Genet B Neuropsychiatr Genet 129:85-93. 2004
    ..A review of the genetic disorders affecting white matter in the pediatric age, including some novel entities, is provided...
  13. ncbi request reprint Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia
    M Di Rocco
    Second Unit of Pediatrics, Istituto G Gaslini, Genoa, Italy
    Am J Med Genet A 118:362-8. 2003
    ..An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities...
  14. doi request reprint Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome
    Susanna Lualdi
    S S D Lab Diagnosi Pre Postnatale Malattie Metaboliche, Dipartimento di Neuroscience, IRCCS G Gaslini, Genoa, Italy
    Hum Mutat 31:E1261-85. 2010
    ..c) 2010 Wiley-Liss, Inc...
  15. pmc Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    Barbara Tappino
    S S D Lab Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Genova, Italy
    Hum Mutat 31:E1894-914. 2010
    ..This is due in part to a GALC missense substitution (p.G553R) that occurs at high frequency on a common founder haplotype background in patients originating from the Naples region...
  16. doi request reprint Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients
    Barbara Tappino
    S S D Lab Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Genova, Italy
    Hum Mutat 30:E956-73. 2009
    ..This study of mutations in the GNPTAB gene, the largest yet reported, extends our knowledge of the mutational heterogeneity evident in MLIIalpha/beta/MLIIIalpha/beta...
  17. doi request reprint Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva
    Mariasavina Severino
    Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy
    J Med Genet 53:859-864. 2016
    ..Evidence of central nervous system involvement has emerged only recently...
  18. doi request reprint Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles
    Serena Grossi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, Genova, Italy
    Hum Mutat 29:E220-30. 2008
    ..It also emphasizes the importance of a comprehensive evaluation in MLD diagnosis including biochemical, enzymatic and molecular investigations...
  19. doi request reprint EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement
    Roberta Biancheri
    Neuroscience Department, Istituto G Gaslini, Largo G Gaslini 5, 16147 Genoa, Italy
    J Neurol 260:1866-70. 2013
    ..These findings strongly suggest that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia...
  20. doi request reprint New insights into central nervous system involvement in FOP: Case report and review of the literature
    Marta Bertamino
    Department of Medicine and Surgery, University of Genoa, Genoa, Italy
    Am J Med Genet A 167:2817-21. 2015
    ..Clinico-radiological course during 10 years of follow-up was consistent with a benign lesion, excluding an oncogenic role of ACVR1 mutations...
  21. doi request reprint Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?
    Marisol Mirabelli-Badenier
    Child Neuropsychiatry Unit, Department of Neurosciences and Rehabilitation, Istituto G Gaslini, Genoa, Italy
    Neuropediatrics 46:104-9. 2015
    ..These patterns can be related to different etiologies, and do not suggest specific diagnoses. Primary ION lesion can be characterized by olivary swelling, and the differentiation from typical secondary HOD may be difficult. ..
  22. ncbi request reprint Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online
    Michela Donnarumma
    Diagnosi Pre Postnatale Malattie Metaboliche Laboratory, IRCCS G Gaslini, Genoa, Italy
    Hum Mutat 28:524. 2007
    ..Molecular characterization of the patients is of particular value for genetic counseling of patients and their families as diagnosis of Pycnodysostosis based on enzyme assay is unpractical and thus not offered routinely...
  23. doi request reprint Clinical and genetic characterization of Chanarin-Dorfman syndrome
    Claudio Bruno
    Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy
    Biochem Biophys Res Commun 369:1125-8. 2008
    ..Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease...
  24. doi request reprint Hypomyelination and congenital cataract: broadening the clinical phenotype
    Roberta Biancheri
    Department of Neuroscience, G Gaslini Institute, Genova, Italy
    Arch Neurol 68:1191-4. 2011
    ..To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A...
  25. doi request reprint A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
    Marisol Mirabelli-Badenier
    UO Neuropsichiatria Istituto Giannina Gaslini, Genoa, Italy
    Metab Brain Dis 30:681-6. 2015
    ..Conventional and advanced MRI sequences, including diffusion tensor imaging and tractography, were used for the assessment of white matter involvement in the patient...
  26. doi request reprint Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm
    Maja Di Rocco
    Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa, Italy
    Pediatr Blood Cancer 61:1905-9. 2014
    ..It will help hematologists in promoting a timely diagnosis and early access to therapy for pediatric patients with GD...
  27. ncbi request reprint Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review
    Massimiliano Rossi
    Department of Pediatrics, Federico II University, Naples, Italy
    Am J Med Genet A 132:144-51. 2005
    ..Periodic liver function evaluations are recommended in these patients...
  28. ncbi request reprint Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes
    Francesca Faravelli
    SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A Gemelli, UCSC, Roma, Italy
    Am J Med Genet A 143:1169-73. 2007
    ..At the same time, the present report adds new insights to mapping some peculiar WHS clinical signs, such as seizures and severe growth delay...
  29. pmc Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements
    Renata Bocciardi
    Laboratory of Molecular Genetics, G Gaslini Institute, Genova, Italy
    Eur J Hum Genet 17:311-8. 2009
    ..The novel amino-acid substitution is predicted to influence either the conformation/stability of the GS region or the binding affinity with FKBP12, resulting in a less stringent inhibitory control on the ACVR1 kinase activity...
  30. doi request reprint Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene
    Livia Pisciotta
    Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, I 16132 Genoa, Italy
    Mol Genet Metab 97:143-8. 2009
    ....
  31. doi request reprint The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature
    Annalisa Madeo
    Unit of Rare Diseases, Department of Pediatrics, G Gaslini Institute, Genoa, Italy Electronic address
    Blood Cells Mol Dis . 2016
    ..A greater attention for GD in the hemato-oncological field is needed, in order to avoid underdiagnosis and to optimize treatment strategies...
  32. ncbi request reprint Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method
    Susanna Lualdi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini, Genova, Italy
    Hum Mutat 25:491-7. 2005
    ..This advantageous approach reduces costs, is less time-consuming, and requires a smaller DNA quantity in comparison to the Southern blot hybridization technique often utilized for such complex rearrangements...
  33. ncbi request reprint Concerning "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol"
    Maja Di Rocco
    Am J Med Genet A 118:199. 2003
  34. ncbi request reprint Clinical and molecular genetic features of ARC syndrome
    Paul Gissen
    Section of Medical and Molecular Genetics, Norton Court, Birmingham Women s Hospital, University of Birmingham, B15 2TG, Edgbaston, Birmingham, UK
    Hum Genet 120:396-409. 2006
    ..In conclusion we state that molecular diagnosis is possible for most children in whom ARC syndrome is suspected and VPS33B mutation analysis should replace organ biopsy as a first line diagnostic test for ARC syndrome...
  35. ncbi request reprint Clinics for adults with hereditary metabolic diseases
    Maja Di Rocco
    Am J Med 112:160-1. 2002
  36. ncbi request reprint Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
    Andrea Rossi
    Department of Pediatric Neuroradiology, G Gaslini Children s Research Hospital, Largo G Gaslini 5, I 16147 Genoa, Italy
    AJNR Am J Neuroradiol 24:1188-91. 2003
    ..MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations...
  37. ncbi request reprint Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    Paul Gissen
    Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children s Hospital, UK
    Nat Genet 36:400-4. 2004
    ..VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion...
  38. ncbi request reprint Gaucher disease phenotype
    Maja Di Rocco
    J Pediatr 145:860; author reply 860-1. 2004
  39. pmc Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
    Nathalie Dagoneau
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 74:298-305. 2004
    ..We conclude, therefore, that SWS and SJS2 represent a single clinically and genetically homogeneous condition due to null mutations in the LIFR gene on chromosome 5p13...
  40. ncbi request reprint Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease
    Mirella Filocamo
    Am J Med Genet A 134:95-6. 2005
  41. ncbi request reprint Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
    Stephan vom Dahl
    Department of Internal Medicine, St Franziskus Hospital, Cologne, Germany
    Curr Med Res Opin 22:1045-64. 2006
    ..Enzyme replacement therapy reverses many of the clinical signs of Gaucher bone disease but early assessment and treatment, and regular monitoring, are essential in optimising outcomes...
  42. ncbi request reprint Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms
    Susanna Lualdi
    Laboratorio Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G Gaslini Largo G Gaslini 16147 Genova, Italy
    Biochim Biophys Acta 1762:478-84. 2006
    ..A close examination of the molecular basis of the disease is becoming increasingly important for optimising the choices of available or forthcoming therapies such as, enzyme replacement therapy or enzyme enhancement therapy...
  43. ncbi request reprint Agenesis of the corpus callosum: clinical and genetic study in 63 young patients
    Maria Francesca Bedeschi
    IRCCS E Medea, Bosisio Parini Lecco, Italy
    Pediatr Neurol 34:186-93. 2006
    ....
  44. ncbi request reprint Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
    Alessandra Pangrazio
    Institute for Biomedical Technologies, CNR, Milan, Italy
    J Bone Miner Res 21:1098-105. 2006
    ..This defect is also present in the gl mouse, which could represent a good model to study the role of the gene in the pathogenesis of this disease...