Search Results - "Vanhanen, S L"

CSF insulin-like growth factor-1 in infantile neuronal ceroid lipofuscinosis by RIIKONEN, R, VANHANEN, S.-L, TYYNELÄ, J, SANTAVUORI, P, TURPEINEN, U

“…Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in which the patients are severely disabled by the age of 3 years. It is…”
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Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis by LONNQVIST, T, VANHANEN, S. L, VETTENRANTA, K, AUTTI, T, RAPOLA, J, SANTAVUORI, P, SAARINEN-PIHKALA, U. M

“…To study the effect of allogeneic hematopoietic stem cell transplantation (SCT) on the clinical course of infantile neuronal ceroid lipofuscinosis (INCL), a…”
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Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease by Vanhanen, S-L, Puranen, J, Autti, T, Raininko, R, Liewendahl, K, Nikkinen, P, Santavuori, P, Suominen, P, Vuori, K, Häkkinen, A-M

“…Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of…”
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MRI of neuronal ceroid lipofuscinosis : I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis by AUTTI, T, RAININKO, R, VANHANEN, S. L, SANTAVUORI, P

“…We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6-25 years) and 43 age-matched healthy volunteers underwent MRI…”
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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL by van Diggelen, O.P., Keulemans, J.L.M., Winchester, B., Hofman, I.L., Vanhanen, S.L., Santavuori, P., Voznyi, Y.V.

“…A deficiency of palmitoyl-protein thioesterase (PPT) was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The…”
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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 by AUTTI, T, RAININKO, R, SANTAVUORI, P, VANHANEN, S. L, POUTANEN, V. P, HALTIA, M

“…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…”
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Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR by Vanhanen, SL, Raininko, R, Santavuori, P

“…To compare early radiologic findings in three clinically similar progressive encephalopathies of childhood. Brain CT and/or MR studies were done in 57 children…”
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The normal brain stem from infancy to old age : a morphometric MRI study by RAININKO, R, AUTTI, T, VANHANEN, S. L, YLIKOSKI, A, ERKINJUNTTI, T, SANTAVUORI, P

“…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…”
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MRI of the normal brain from early childhood to middle age. I: Appearances on T2- and proton density-weighted images and occurrence of incidental high-signal foci by AUTTI, T, RAININKO, R, VANHANEN, S. L, KALLIO, M, SANTAVUORI, P

“…The magnetic resonance images of 67 healthy subjects aged 4-50 years were studied for differences in general signal intensity between the different brain…”
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Psychological symptoms and sleep disturbances in neuronal ceroid‐lipofuscinoses (NCL) by Santavuori, P., Linnankivi, T., Jaeken, J., Vanhanen, S. ‐L., Telakivi, T., Heiskala, H.

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MRI of the normal brain from early childhood to middle age. II: Age dependence of signal intensity changes on T2-weighted images by AUTTI, T, RAININKO, R, VANHANEN, S. L, KALLIO, M, SANTAVUORI, P

“…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…”
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Brain perfusion SPECT abnormalities in neuronal ceroid lipofuscinoses by Liewendahl, K, Vanhanen, S L, Heiskala, H, Raininko, R, Nikkinen, P, Launes, J, Santavuori, P

“…Brain perfusion was studied with the Tc-99m-HMPAO SPECT method in 19 INCL patients, 21 JNCL patients and 5 patients with Jansky-Bielschowsky variant disease…”
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Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder by Haataja, L, Parkkola, R, Sonninen, P, Vanhanen, S L, Schleutker, J, Aärimaa, T, Turpeinen, U, Renlund, M, Aula, P

“…Salla disease (SD) is a recessively inherited lysosomal storage disorder particularly common in the Finnish population. Patients with SD are normal at birth,…”
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Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL) by Aberg, L, Heiskala, H, Vanhanen, S L, Himberg, J J, Hosking, G, Yuen, A, Santavuori, P

“…Since 1990, altogether 16 INCL patients received lamotrigine (LTG) because of intractable epilepsy. The response to LTG was favorable in 15/16 children. The…”
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Brain perfusion SPECT in infantile neuronal ceroid-lipofuscinosis (INCL). Comparison with clinical manifestations and MRI findings by Vanhanen, S L, Liewendahl, K, Raininko, R, Nikkinen, P, Autti, T, Sainio, K, Santavuori, P

“…We studied brain perfusion in 19 patients with infantile neuronal ceroid-lipofuscinosis (INCL), aged 13 months to 11 years, using 99mTc-HMPAO single photon…”
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Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders by Santavuori, Pirkko, Vanhanen, Sanna-Leena, Autti, Taina

“…Early diagnosis is mandatory for avoiding further cases in families with hereditary metabolic brain disorders. Thisreview lists the most important clinical…”
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MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis by Santavuori, P, Raininko, R, Vanhanen, S L, Launes, J, Sainio, K

“…Two patients with infantile neuronal ceroid lipofuscinosis are presented whose clinical diagnosis was based on the typical clinical picture, together with…”
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Infantile neuronal ceroid-lipofuscinosis (INCL) : diagnostic criteria by SANTAVUORI, P, VANHANEN, S.-L, SAINIO, K, NIEMINEN, M, WALLDEN, T, LAUNES, J, RAININKO, R

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EEG and evoked potentials in infantile neuronal ceroid‐lipofuscinosis by Vanhanen, Sanna‐Leena, Sainio, Kimmo, Lappi, Marjatta, Santavuori, Pirkko

“…Sixteen children with infantile neuronal ceroid‐lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual…”
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Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain by Autti, T, Raininko, R, Vanhanen, S L, Santavuori, P

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