M Arvio

Summary

Country: Finland

Publications

  1. ncbi Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
    M Arvio
    Pääjärvi Rehabilitation Center, Lammi, Finland
    Acta Paediatr 82:587-9. 1993
  2. ncbi Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland
    M Arvio
    Pääjärvi Centre for the Mentally Retarded, Lammi, and Department of Child Neurology, Turku University, Turku, Finland
    J Intellect Disabil Res 47:108-12. 2003
  3. ncbi Topiramate in long-term treatment of epilepsy in the intellectually disabled
    M Arvio
    Pääjarvi Centre, Lammi, Turku University, Turku, Finland
    J Intellect Disabil Res 49:183-9. 2005
  4. ncbi Dysmorphic facial features in aspartylglucosaminuria patients and carriers
    Maria A Arvio
    Pääjarvi Centre, Pääjarvi Inter Municipal Association, 16980 Lammi, Finland
    Clin Dysmorphol 13:11-5. 2004
  5. pmc Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis
    M Arvio
    The Pääjärvi Centre, Lammi, Department of Pediatric Neurology, Tampere University Hospital, Finland
    Ann Rheum Dis 61:180-1. 2002
  6. pmc Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
    P Arvio
    Pääjarvi Centre, Ronni, Finland
    J Med Genet 36:398-404. 1999
  7. ncbi Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills
    M Arvio
    Pääjarvi Rehabilitation Centre, Lammi, Finland
    Acta Paediatr 82:590-4. 1993
  8. ncbi Reduction in head size in patients with aspartylglucosaminuria
    M Arvio
    Pääjärvi Intermunicipal Association, Lammi, Finland
    Acta Neurol Scand 112:335-7. 2005
  9. doi Cardiolipin and β₂-Glycoprotein I antibodies associate with cognitive impairment and seizure frequency in developmental disorders
    K A Lehtimäki
    Department of Neurosurgery, Tampere University Hospital, Teiskontie 35, 33521 Tampere, Finland
    Seizure 20:438-41. 2011
  10. ncbi Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients
    M Arvio
    , Lammi, Finland
    J Pediatr 138:288-90. 2001

Collaborators

Detail Information

Publications14

  1. ncbi Early clinical symptoms and incidence of aspartylglucosaminuria in Finland
    M Arvio
    Pääjärvi Rehabilitation Center, Lammi, Finland
    Acta Paediatr 82:587-9. 1993
    ..The disease is easily misdiagnosed and, universally, probably underdiagnosed. Its incidence in Finland was recalculated and appeared to be at least 1 in 18,500 live-born babies in this country...
  2. ncbi Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland
    M Arvio
    Pääjärvi Centre for the Mentally Retarded, Lammi, and Department of Child Neurology, Turku University, Turku, Finland
    J Intellect Disabil Res 47:108-12. 2003
    ..The aim of the present study was to describe the aetiology, associated impairments and prevalence of severe and profound intellectual disability (SPID) in Finland...
  3. ncbi Topiramate in long-term treatment of epilepsy in the intellectually disabled
    M Arvio
    Pääjarvi Centre, Lammi, Turku University, Turku, Finland
    J Intellect Disabil Res 49:183-9. 2005
    ..To study the effectiveness of topiramate (TPM) in refractory epilepsy in patients who have intellectual disability (ID)...
  4. ncbi Dysmorphic facial features in aspartylglucosaminuria patients and carriers
    Maria A Arvio
    Pääjarvi Centre, Pääjarvi Inter Municipal Association, 16980 Lammi, Finland
    Clin Dysmorphol 13:11-5. 2004
    ..Statistically, puffy eyelids were found to be significantly more frequent in AGU carriers than in controls. These findings support an earlier implication that AGU carrier status might have a slight influence on the phenotype...
  5. pmc Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis
    M Arvio
    The Pääjärvi Centre, Lammi, Department of Pediatric Neurology, Tampere University Hospital, Finland
    Ann Rheum Dis 61:180-1. 2002
    ..To ascertain whether being a carrier of an autosomal recessive disease, aspartylglucosaminuria (AGU), predisposes to chronic arthritis, as does AGU disease...
  6. pmc Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
    P Arvio
    Pääjarvi Centre, Ronni, Finland
    J Med Genet 36:398-404. 1999
    ..Thus, the high frequency of mucosal overgrowth in AGU patients does not appear to be directly associated with lysosomal storage or with alterations in the level of AGA expression...
  7. ncbi Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills
    M Arvio
    Pääjarvi Rehabilitation Centre, Lammi, Finland
    Acta Paediatr 82:590-4. 1993
    ..Out-of-home replacement became necessary in the majority in adulthood. Twenty-eight patients (25%) were regarded as having behavioural disturbances and the amount of personal disturbances increased significantly with age...
  8. ncbi Reduction in head size in patients with aspartylglucosaminuria
    M Arvio
    Pääjärvi Intermunicipal Association, Lammi, Finland
    Acta Neurol Scand 112:335-7. 2005
    ..To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease...
  9. doi Cardiolipin and β₂-Glycoprotein I antibodies associate with cognitive impairment and seizure frequency in developmental disorders
    K A Lehtimäki
    Department of Neurosurgery, Tampere University Hospital, Teiskontie 35, 33521 Tampere, Finland
    Seizure 20:438-41. 2011
    ..Present data demonstrates that epilepsy with frequently recurring seizures may be associated with secondary immune system activation...
  10. ncbi Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients
    M Arvio
    , Lammi, Finland
    J Pediatr 138:288-90. 2001
    ..Their dysmorphic status remained unchanged. We cannot encourage bone marrow transplantation for the treatment of patients with aspartylglucosaminuria after infancy...
  11. doi Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability
    P Kilpinen-Loisa
    Paijat Hame Central Hospital, Department of Pediatric Neurology, Lahti, Finland
    J Intellect Disabil Res 53:1014-23. 2009
    ..The purpose of this study was to evaluate vitamin D status in adults with ID living in nursing homes and to compare two different means to administer vitamin D in adults with ID...
  12. ncbi Progressive nature of aspartylglucosaminuria
    P Arvio
    Lammi Tuulos Health Care Centre, Finland
    Acta Paediatr 91:255-7. 2002
    ..Descriptions of the outcome of aspartylglucosaminuria (AGU) were analysed, and a comprehensive summary table of symptoms and signs by age was designed...
  13. ncbi De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features
    M Peippo
    Department of Medical Genetics, The Family Federation of Finland, 00100 Helsinki, Finland
    Genet Couns 15:341-6. 2004
    ..The observations in the two patients suggest that this chromosomal rearrangement is associated with a congenital complex movement disorder...
  14. pmc Cardiovascular manifestations in 75 patients with Williams syndrome
    M Eronen
    The Hospital for Children and Adolescents, Division of Paediatric Cardiology, University of Helsinki, Finland
    J Med Genet 39:554-8. 2002
    ..7 years)...