Glossary entry (derived from question below)
English term or phrase:
HEK assay amenable mutations
Serbian translation:
mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona
Added to glossary by
Svetomir Mijovic
Nov 18, 2022 18:22
1 yr ago
10 viewers *
English term
HEK assay amenable mutations
English to Serbian
Medical
Medical: Pharmaceuticals
pharmacological tests
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....
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....
Proposed translations
(Serbian)
4 | mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona | Milan Nesic |
Proposed translations
4 hrs
Selected
mutacije reaktivne na osnovu analize sa ćelijama bubrega ljudskog embriona
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".
"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".
4 KudoZ points awarded for this answer.
Comment: "Hvala!"
Reference comments
2 hrs
Reference:
HEK =
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, ...
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, ...
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