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Bone marrow transpl...
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Autti, Taina
(författare)
Bone marrow transplantation in aspartylglucosaminuria : histopathological and MRI study
- Artikel/kapitelEngelska1999
Förlag, utgivningsår, omfång ...
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2007-03-12
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Georg Thieme Verlag KG,1999
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-57117
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-57117URI
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https://doi.org/10.1055/s-2007-973506DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
Anmärkningar
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This study comprised two patients with aspartylglucosaminuria (AGU), who were followed up for 4 and 7 years. The patients underwent allogeneic bone marrow transplantation (BMT) at the ages of 2 and 2.6 years. Both patients had abnormal speech development and gross motor clumsiness. At the time of the BMT, they were mentally retarded. We report on follow-up data of these patients obtained by MRI, in addition to the histopathological, biochemical and clinical investigations. MR images of six non-transplanted patients and seven healthy children served as controls. In the non-transplanted patients, MRI revealed evident delay of myelination in contrast to the two transplanted patients showing fair or evident grey- vs. white matter differentiation on T2-weighted images. The aspartylglucosaminidase (AGA) activity in blood leukocytes reached a heterozygous level. Urinary excretion of aspartylglucosamine and glycoasparagines slowly decreased but remained about a third of the pre-BMT level 5 years after BMT. Storage lysosomes in electron microscopic investigations were not decreased 6 months after BMT, but after 1.5-2 years, rectal mucosa samples showed a decrease in the storage vacuoles of different cells. Three years after BMT, no cells with storage vacuoles were present. Allogeneic BMT slowly normalises the pathological, biochemical and MRI findings in patients with AGU.
Ämnesord och genrebeteckningar
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Aspartylglucosaminuria
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Bone marrow transplantation (BMT)
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MRI
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Histopathology
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MEDICINE
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MEDICIN
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Rapola, J.
(författare)
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Santavuori, Pirkko
(författare)
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Raininko, RailiUppsala universitet,Institutionen för onkologi, radiologi och klinisk immunologi,RAD
(författare)
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Renlund, M.
(författare)
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Liukkonen, E.
(författare)
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Lauronen, Leena
(författare)
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Wirtavuori, Kari
(författare)
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Hietala, M
(författare)
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Saarinen-Pihkala, U.
(författare)
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Uppsala universitetInstitutionen för onkologi, radiologi och klinisk immunologi
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Neuropediatrics: Georg Thieme Verlag KG30:6, s. 283-80174-304X1439-1899
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