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| rdf:type
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| Description
| - Diamond-Blackfanova anemie přitahuje pozornost, neboť symptomy jsou spojené s mutacemi v RPS191 a RPS242 u 25% a 2% u DBA pacientů, ukazují možný vztah mezi ribosomální funkcí, úrovní translace a erytropoiesou. V naší nedávné studii jsme ukázali, že úspěšnost translace byla u většiny pacientů s DBA snížena a leucin byl testován jako potenciální modulátor proteinové syntézy se slibnými výsledky. Rozhodli jsme se otestovat efekt leucinu u paceinta s DBA. Leucin by podáván 7-mileté dívce s těžkou DBA. Během období 6-ti měsíců bylo pozorováno postupné zlepšení počtu retikulocytů, hladiny hemoglobinu a sížení sérové haldiny feritinu. Pacientka se stala nezávislou na transfúzích a je stále v remisi (>5 měsíců). (cs)
- Diamond-Blackfan anemia attracts much attention, because symptoms are associated with mutations in RPS191 and RPS242 in 25% and 2% of DBA patients, respectively, indicating a possible relationship between the ribosomal function, translation levels and erythropoiesis. Indeed, in our recent study we showed that translational efficiency was lowered in most DBA patients, and leucine was tested as a potential modulator of protein synthesis with promising results.3 We therefore decided to test the effects of leucine in DBA patients. The leucine was administered to the 7-year old girl with severe Diamond-Blackfan anemia. Over a period of 6 months, a gradual improvement in reticulocyte count, hemoglobin level and reduction of serum ferritin level were observed; the patient became transfusion independent, and is currently still in remission (>5 months).
- Diamond-Blackfan anemia attracts much attention, because symptoms are associated with mutations in RPS191 and RPS242 in 25% and 2% of DBA patients, respectively, indicating a possible relationship between the ribosomal function, translation levels and erythropoiesis. Indeed, in our recent study we showed that translational efficiency was lowered in most DBA patients, and leucine was tested as a potential modulator of protein synthesis with promising results.3 We therefore decided to test the effects of leucine in DBA patients. The leucine was administered to the 7-year old girl with severe Diamond-Blackfan anemia. Over a period of 6 months, a gradual improvement in reticulocyte count, hemoglobin level and reduction of serum ferritin level were observed; the patient became transfusion independent, and is currently still in remission (>5 months). (en)
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| Title
| - Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine.
- Úspěšná léčba pacienta s Diamond-Blackfanovou anemií aminokyselinou leucinem. (cs)
- Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. (en)
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| skos:prefLabel
| - Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine.
- Úspěšná léčba pacienta s Diamond-Blackfanovou anemií aminokyselinou leucinem. (cs)
- Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine. (en)
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| skos:notation
| - RIV/61989592:15110/07:00007305!RIV09-MSM-15110___
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
| - Z(MSM6198959205), Z(MZ0UHKT2005)
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/61989592:15110/07:00007305
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - Diamond-Blackfan anemia; erythropoesis (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Haematologica: the hematology journal
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Pospíšilová, Dagmar
- Adam, Tomáš
- Hak, Jiří
- Čmejla, Radek
- Čmejlová, Jana
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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| http://localhost/t...ganizacniJednotka
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| is http://linked.open...avai/riv/vysledek
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