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  1. No Access

    Chapter

    Vitamin B6 Supplementation in Juvenile Neuronal Ceroid Lipofuscinosis Patients

    In this study concerning juvenile neuronal ceroid lipofuscinosis patients, the pyridoxine (vitamin B-6) values (measured by an activation method) did not differ in sodium selenite and vitamin E (antioxidant) p...

    U. Vuonnali, T. Westermarck, P. Santavuori, P. Pohja… in Biochemistry of Vitamin B6 (1987)

  2. No Access

    Article

    Hormonal background of the hypertension and fluid derangements associated with adrenocorticotrophic hormone treatment of infants

    We studied the hormonal background of the fluid derangements and arterial hypertension associated with adrenocorticotrophic hormone (ACTH) treatment for infantile spasms in ten infants aged 5–22 months. They r...

    R. Riikonen, O. Simell, L. Dunkel, P. Santavuori… in European Journal of Pediatrics (1989)

  3. No Access

    Article

    Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics

    The refined assignment of the INCL locus and the observed strong linkage disequilibrium with one highly informative tetranucleotide repeat polymorphism at 1p32 has created reliable tools for DNA-based prenatal...

    E. Hellsten, J. Vesa, I. Järvelä, T. P. Mäkelä… in Journal of Inherited Metabolic Disease (1993)

  4. No Access

    Article

    Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: Morphological aspects

    J. Rapola, R. Salonen, P. Ämmälä, P. Santavuori in Journal of Inherited Metabolic Disease (1993)

  5. No Access

    Article

    Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria

    P. Santavuori, S-L. Vanhanen, K. Sainio… in Journal of Inherited Metabolic Disease (1993)

  6. No Access

    Article

    Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: Diagnostic criteria and nomenclature

    P. Santavuori, J. Rapola, R. Raininko, T. Autti… in Journal of Inherited Metabolic Disease (1993)

  7. No Access

    Article

    Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL)

    P. Santavuori, T. Linnankivi, J. Jaeken… in Journal of Inherited Metabolic Disease (1993)

  8. No Access

    Article

    The normal brain stem from infancy to old age

    Our purpose was to develop a method of measuring the size of the brain stem by routine MRI and to determine brain stem dimensions in a normal population. We examined 174 subjects, aged 4 months to 86 years, wi...

    R. Raininko, T. Autti, S. L. Vanhanen, A. Ylikoski, T. Erkinjuntti… in Neuroradiology (1994)

  9. No Access

    Article

    MRI of the brain in muscle-eye-brain (MEB) disease

    Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital ...

    L. Valanne, H. Pihko, K. Katevuo, P. Karttunen, H. Somer, P. Santavuori in Neuroradiology (1994)

  10. No Access

    Article

    MRI of the normal brain from early childhood to middle age

    The magnetic resonance images of 67 healthy subjects aged 4–50 years were studied for differences in general signal intensity between the different brain structures, the frequency of focal intensity changes in...

    T. Autti, R. Raininko, S. L. Vanhanen, M. Kallio, P. Santavuori in Neuroradiology (1994)

  11. No Access

    Article

    MRI of the normal brain from early childhood to middle age

    We examined 66 healthy volunteers aged 4 to 50 years by magnetic resonance imaging (MRI) and the signal intensity was measured on T2-weighted images in numerous sites and correlated with age and sex. Using dis...

    T. Autti, R. Raininko, S. L. Vanhanen, M. Kallio, P. Santavuori in Neuroradiology (1994)

  12. No Access

    Article

    MRI of neuronal ceroid lipofuscinosis

    We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6–25 years) and 43 age-matched healthy volunteers underwent MRI. After visual assessment, the signal intensity was...

    T. Autti, R. Raininko, S. L. Vanhanen, P. Santavuori in Neuroradiology (1996)

  13. No Access

    Article

    MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

    Postmortem MRI was carried out on the formalin-fixed brains of 14 patients with juvenile (JNCL) and two with late infantile neuronal ceroid lipofuscinosis, one of variant and the other of classical type. Two ...

    T. Autti, R. Raininko, P. Santavuori, S. L. Vanhanen, V. P. Poutanen… in Neuroradiology (1997)

  14. No Access

    Article

    Atypical juvenile neuronal ceroid liposfuscinosis with granular osmiophilic deposit-like inclusions in the autonomic nerve cells of the gut wall

    In this 8-year-old boy, who had been exposed to alcohol and oxazepam during pregnancy, visual failure was the first symptom of a neuronal ceroid lipofuscinosis (NCL) disorder, noticed at the age of 5 years. O...

    L. Åberg, I. Järvelä, J. Rapola, T. Autti, E. Kirveskari, M. Lappi… in Acta Neuropathologica (1998)

  15. No Access

    Article

    Neuronal ceroid lipofuscinoses in childhood

    NCL disorders are progressive brain diseases with an autosomal recessive inheritance in all eleven childhood types. These occure world-wide but may be enriched in some countries. In Finland altogether about 4...

    P. Santavuori, L. Lauronen, E. Kirveskari, L. Åberg, K. Sainio… in Neurological Sciences (2000)