Şunu aradınız:: autosomal (İngilizce - Maltaca)

jinarc is a medicine used to treat adults with autosomal dominant polycystic kidney disease.
jinarc huwa mediċina li tintuża biex tikkura adulti b'marda poliċistika tal-kliewi awtosomali dominanti.

gaucher disease is an autosomal recessive disorder caused by mutations in the gba gene which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase.
il-marda ta’ gaucher hija disturb reċessiv awtosomali kkawżat minn mutazzjonijiet fil-ġene gba li jirriżulta f’nuqqas tal-enzim beta-glucocerebrosidase liżosomali.

hae (an autosomal dominant disease) is caused by an absence or dysfunction of c1-esterase- inhibitor.
l-hae (marda awtosomali dominanti) hija kkawżata minn nuqqas jew disfunzjoni ta’ l-inibitur esterase c1.

jinarc is a medicine used to treat a disease called “autosomal dominant polycystic kidney disease” (adpkd).
jinarc huwa mediċina li tintuża biex tikkura marda msejħa “marda poliċistika tal-kliewi awtosomalment dominanti” (adpkd - autosomal dominant polycystic kidney disease).

in autosomal dominant polycystic kidney disease, it is thought that kidney cells do not respond normally to vasopressin, leading to the formation of fluid-filled cysts.
f'marda poliċistika tal-kliewi awtosomali dominanti, huwa maħsub li ċ-ċelloli tal- kliewi ma jirrispondux b'mod normali għall-vasopressin, u dan iwassal għall-formazzjoni taċ-ċisti mimlijin bi fluwidu.

lal deficiency is an autosomal recessive lysosomal storage disorder characterised by a genetic defect resulting in a marked decrease or loss in activity of the lysosomal acid lipase (lal) enzyme.
defiċjenza ta’ lal hija disturb awtosomali riċessiv fil-ħażna tal-lisosomi kkaratterizzat minn difett ġenetiku li jwassal għal tnaqqis jew telf sostanzjali fl-attività tal-enzima lysosomal acid lipase (lal).

the chmp noted the unmet need for treatments for autosomal dominant polycystic kidney disease and considered that jinarc is effective at slowing down cyst formation and possibly the decline in kidney function in patients with the condition, although further long-term data are awaited.
is-chmp innota l-ħtieġa mhux sodisfatta għal kuri għal marda poliċistika tal-kliewi awtosomali dominanti u kkunsidra li jinarc huwa effettiv biex inaqqas ir-ritmu tal-formazzjoni taċ-ċisti u possibbilment l-indeboliment fil- funzjoni tal-kliewi f'pazjenti bil-kundizzjoni, għalkemm hija mistennija data fit-tul oħra.

hyperphenylalaninaemia (hpa) is diagnosed as an abnormal elevation in blood phenylalanine levels and is usually caused by autosomal recessive mutations in the genes encoding for phenylalanine hydroxylase enzyme (in the case of phenylketonuria, pku) or for the enzymes involved in 6r-tetrahydrobiopterin (6r- bh4) biosynthesis or regeneration (in the case of bh4 deficiency).
f’hyperphenylalaninaemia (hpa) ikun hemm żieda anormali fil-livelli ta’ phenylalanine fid-demm li hija normalment ikkawżata b’mutazzjonijiet awtosomali reċessivi involuti fil-konverżjoni tal-ġeni għall-enżima phenylalanine hydroxylase (f’kaz ta’ phenylketonuria, pku) jew għall-enżimi nvoluti fil-bijosintesi 6r-tetrahydrobiopterin jew fir-riġenerazzjoni (f’każ ta’ defiċjenza bh4).