HEK assay amenable mutations

Serbian translation: mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona

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English term or phrase:HEK assay amenable mutations
Serbian translation:mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona
Entered by: Svetomir Mijovic

18:22 Nov 18, 2022
English to Serbian translations [PRO]
Medical - Medical: Pharmaceuticals / pharmacological tests
English term or phrase: HEK assay amenable mutations
HEK assay amenable mutations include at least those mutations listed in a pharmacological reference table (e.g., the ones recited in the U.S. or International Product labels for a migalastat product such as GALAFOLD®). ...
Approximately 30-50% of patients with Fabry disease have HEK assay amenable mutations; the majority of which are associated with the classic phenotype of the disease....
Svetomir Mijovic
Serbia
Local time: 15:33
mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona
Explanation:
Tj. mutacije za koje se, na osnovu analize (u skladu sa dobrom laboratorijskom praksom) sa (genetski modifikovanim) ćelijama bubrega ljudskog embriona, pokaže da reaguju na terapiju.

"Amenability is determined by an in vitro, good laboratory practice (GLP)-validated assay using HEK293 cells (GLP-HEK assay)"

"The term ‘amenable mutation’ is used to describe certain mutations of the galactosidase alpha gene (GLA), found in people with Fabry disease, which respond to treatment with Galafold (migalastat)."

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Note added at 2 days 7 hrs (2022-11-21 01:56:30 GMT)
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Još bolji prevod za "amenable" bi bio "responzivne".
Selected response from:

Milan Nesic
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Hvala!
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Summary of answers provided
4mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona
Milan Nesic
Summary of reference entries provided
HEK =
liz askew

  

Answers


4 hrs   confidence: Answerer confidence 4/5Answerer confidence 4/5
mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona


Explanation:
Tj. mutacije za koje se, na osnovu analize (u skladu sa dobrom laboratorijskom praksom) sa (genetski modifikovanim) ćelijama bubrega ljudskog embriona, pokaže da reaguju na terapiju.

"Amenability is determined by an in vitro, good laboratory practice (GLP)-validated assay using HEK293 cells (GLP-HEK assay)"

"The term ‘amenable mutation’ is used to describe certain mutations of the galactosidase alpha gene (GLA), found in people with Fabry disease, which respond to treatment with Galafold (migalastat)."

--------------------------------------------------
Note added at 2 days 7 hrs (2022-11-21 01:56:30 GMT)
--------------------------------------------------

Još bolji prevod za "amenable" bi bio "responzivne".


    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656697/
    https://www.drugs.com/medical-answers/amenable-mutation-3560832/
Milan Nesic
Native speaker of: Native in SerbianSerbian
PRO pts in category: 120
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Reference comments


2 hrs peer agreement (net): +1
Reference: HEK =

Reference information:
report from two phase 2 clinical studies - NCBI
https://www.ncbi.nlm.nih.gov › articles › PMC3527132
by DP Germain · 2012 · Cited by 127 — Fabry disease (FD) is a genetic disorder resulting from deficiency of ... HEK-293 = transfection assay in**** Human Embryonic Kidney***-293 cells, ...

liz askew
United Kingdom
Works in field
Native speaker of: Native in EnglishEnglish

Peer comments on this reference comment (and responses from the reference poster)
agree  Milan Nesic
2 hrs
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