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  1. No Access

    Article

    Bone marrow transplantation in young aspartylglucosaminuria mice: improved clearance of lysosomal storage in brain by using wild type as compared to heterozygote donors

    M Laine, L Ahtiainen, J Rapola, J Richter, A Jalanko in Bone Marrow Transplantation (2004)

  2. No Access

    Article

    Adenovirus-mediated gene transfer results in decreased lysosomal storage in brain and total correction in liver of aspartylglucosaminuria (AGU) mouse

    Aspartylglucosaminuria (AGU) is a lysosomal storage disease leading to mental retardation, which is caused by deficiency of aspartylglucosaminidase (AGA). AGU is strongly enriched in the Finnish population in ...

    M Peltola, A Kyttälä, O Heinonen, J Rapola, T Paunio, F Revah, L Peltonen… in Gene Therapy (1998)

  3. 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)

  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

    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)

  6. No Access

    Article

    Cyclosporin reduces renal prostanoid excretion in type 1 diabetic patients

    Prostacyclin and thromboxane A2 are important regulators of kidney blood flow. To examine whether changes in their metabolism could be involved in the nephrotoxicity of cyclosporin, we determined urinary excretio...

    V. A. Koivisto, M. Leirisalo-Repo, R. Pelkonen, U. Turunen, J. Rapola… in Acta Diabetologica (1992)

  7. No Access

    Article

    The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type

    A decrease in the concentration of heparan sulphate proteoglycan (HSPG) in the glomerular basement membrane (GBM) is supposed to cause the increased GBM permeability in the congenital nephrotic syndrome (CNS)....

    L. P. W. J. Van den Heuvel, J. Van den Born, H. Jalanko… in Pediatric Nephrology (1992)

  8. No Access

    Article

    Kidney biopsy findings in cyclosporine-treated patients with insulin-dependent diabetes mellitus

    Renal biopsy specimens of 40 patients with recent-onset insulin-dependent diabetes mellitus treated with cyclosporine (CSA) for 6–29 months were examined. Cyclosporine-associated chronic vascular interstitial ...

    M. J. Mihatsch, U. Helmchen, P. Casanova, R. Habib, S. Larsen… in Klinische Wochenschrift (1991)

  9. No Access

    Chapter and Conference Paper

    Neuronal Intestinal Dysplasia

    A series of 21 patients with NID is presented. A histologic and histochemical picture of NID was seen in an heterogenous group of patients. NID was associated with bowel obstruction and/or Perforation in six n...

    R. Rintala, J. Rapola, I. Louhimo in Constipation and Fecal Incontinence and Mo… (1989)

  10. No Access

    Article

    Congenital nephrotic syndrome

    Congentital nephrotic syndrome (CNS) is an uncommon disorder. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The probl...

    J. Rapola in Pediatric Nephrology (1987)

  11. No Access

    Article

    Improved technique for the expression of fragile-X in cultured amniotic fluid cells

    An improved technique for inducing fra(X) expression in cultured cells was obtained by using diazepam for mitotic arrest and 5-fluorodeoxyuridine (FUdR) for the induction of fra(X) expression. The method was d...

    Harriet von Koskull, P. Aula, P. Ämmälä, A. M. Nordström, J. Rapola in Human Genetics (1985)

  12. No Access

    Article

    Demonstration of laminin, a basement membrane glycoprotein, in routinely processed formalin-fixed human tissues

    Laminin was demonstrated by immunoperoxidase and immunofluorescence staining in sections of normal human tissues fixed in formalin and routinely processed in paraffin. Exposure of the sections to a solution of...

    P. Ekblom, M. Miettinen, J. Rapola, J. -M. Foidart in Histochemistry (1982)

  13. Article

    Treatment of patients with gyrate atrophy of the choroid and retina with hyperornithinemia (GA) with creatine, a clinical trial

    GA is an autosomal recessive disease involving the eyes and type II muscle fibers. In the eyes, progressive atrophy of the choroid and retina starts by age 5-9 years and leads to virtual blindness in 20-40 yea...

    I Sipilä, O Simell, J Rapola, A Vannas, J Perheentupa in Pediatric Research (1980)

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  14. Article

    Muscle pathology in hyperornithinemia with gyrate atrophy of the choroid and retina (HOGA)

    HOGA is an autosomal recessive disease, which is clearly enriched in Finland. Our 30 patients have a 10-20-fold elevation of ornithine levels in plasma and urine. The clinical disease appears at the age of 5-9...

    I Sipilä, O Simell, J Rapola, K Sainio in Pediatric Research (1979)

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  15. Article

    Combined immunodeficiency associated with adenosine deaminase enzyme with altered kinetic properties

    About one half of patients with severe combined immunodeficiency also have a hereditary defect in adenosine deaminase (ADA). We report a child with fatal combined immunodeficiency and erythrocyte ADA with alte...

    T Hovi, C Holmberg, A Ranki, P Häyry, J Rapola, E Savilahti in Pediatric Research (1979)

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  16. No Access

    Article

    Histopathological changes in rats and pigs fed rapeseed oil

    Rats were fed diets in which rapeseed oil provided 0, 15, 30, 50 or 70 per cent of the calories. The controls were rats whose diet contained 30 or 70 cal. per cent of soybean oil. The diet containing 50 and es...

    Paavo Roine, Erkki Uksila, H. Teir, J. Rapola in Zeitschrift für Ernährungswissenschaft (1960)