Search Results - "VARHO, T"

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder by Varho, Tarja T., Alajoki, Liisa E., Posti, Kristiina M., Korhonen, Tapio T., Renlund, Martin G., Nyman, Samuel R.G., Sillanpää, Matti L., Aula, Pertti P.

“…Salla disease (MIM 269920) represents the mildest phenotype among recessively inherited lysosomal-free sialic acid storage disorders. Although the vast…”
Get full text

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease by VARHO, T, JÄÄSKELÄINEN, S, TOLONEN, U, SONNINEN, P, VAINIONPÄÄ, L, AULA, P, SILLANPÄÄ, M

“…To evaluate the degree of possible peripheral nervous system (PNS) involvement in addition to CNS manifestations in Salla disease, a free sialic acid storage…”
Get full text

A 13-year follow-up of Finnish patients with Salla disease by Paavola, Liisa E, Remes, Anne M, Harila, Marika J, Varho, Tarja T, Korhonen, Tapio T, Majamaa, Kari

“…Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused…”
Get full text

A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease by VARHO, T, KOMU, M, SONNINEN, P, HOLOPAINEN, I, NYMAN, S, MANNER, T, SILLANPÄÄ, M, AULA, P, LUNDBOM, N

“…To determine whether N-acetylaspartate (NAA) is reduced in patients with Salla disease, a neurodegenerative disorder. 1H MRS allows the brain metabolism to be…”
Get full text

Neurocognitive profiles in Salla disease by Alajoki, Liisa, Varho, Tarja, Posti, Kristiina, Aula, Pertti, Korhonen, Tapio

“…Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease…”
Get full text

Brain Involvement in Salla Disease by Sonninen, Pirkko, Autti, Taina, Varho, Tarja, Hamalainen, Mirja, Raininko, Raili

“…Our purpose was to document the nature and progression of brain abnormalities in Salla disease, a lysosomal storage disorder, with MR imaging. Fifteen patients…”
Get full text

Increased Brain Glucose Utilization in Salla Disease (Free Sialic Acid Storage Disorder) by Suhonen-Polvi, Hanna, Varho, Tarja, Metsahonkala, Liisa, Haataja, Leena, Ruotsalainen, Ulla, Haaparanta, Merja, Bergman, Jorgen, Solin, Olof, Aarimaa, Tuula, Holopainen, Irma, Vainionpaa, Leena, Manner, Tuula, Jaaskelainen, Satu, Renlund, Martin, Sillanpaa, Matti, Aula, Pertti

“…Salla disease is an autosomal recessive lysosomal free sialic acid storage disorder characterized by psychomotor retardation and ataxia. MRI studies have…”
Get full text

Twenty-six early operations in brachial birth palsy by Alanen, M, Ryöppy, S, Varho, T

“…26 babies with brachial birth palsy were operated on at the age of 12-275 days (mean 75 days) in paediatric surgical departments of Helsinki (12 cases) and…”
Get more information