- Early clinical symptoms and incidence of aspartylglucosaminuria in FinlandM 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...
- Prevalence, aetiology and comorbidity of severe and profound intellectual disability in FinlandM 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...
- Topiramate in long-term treatment of epilepsy in the intellectually disabledM 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)...
- Dysmorphic facial features in aspartylglucosaminuria patients and carriersMaria 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...
- Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritisM 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...
- Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuriaP 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...
- Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skillsM 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...
- Reduction in head size in patients with aspartylglucosaminuriaM 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...
- Cardiolipin and ??-Glycoprotein I antibodies associate with cognitive impairment and seizure frequency in developmental disordersK 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...
- Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patientsM 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...
- Vitamin D status and optimal supplementation in institutionalized adults with intellectual disabilityP 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...
- Progressive nature of aspartylglucosaminuriaP Arvio
Lammi Tuulos Health Care Centre, Finland
Acta Paediatr 91:255-7. 2002..CONCLUSION: The multifarious progressive nature of AGU is obvious in the skills and abilities of patients, as well as in their personality, general health and physical appearance...
- De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic featuresM 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...
- Cardiovascular manifestations in 75 patients with Williams syndromeM Eronen
The Hospital for Children and Adolescents, Division of Paediatric Cardiology, University of Helsinki, Finland
J Med Genet 39:554-8. 2002..7 years)...