FrancophonIA/ELRC3.0 huggingface dataset:
English: c.712A>C or c.714T>A or c.714T>G
Croatian: c.712A>C ili c.714T>A ili c.714T>G
English: c.A924T or c.A924C
Croatian: c.A924T ili c.A924C
English: c.A442C or c.T444A or c.T444G S148R
Croatian: c.A442C ili c.T444A ili c.T444G S148R
English: Patient-Reported Outcome - Gastrointestinal Symptoms Rating Scale In the ERT-naïve trial, analyses of the Gastrointestinal Symptoms Rating Scale demonstrated that treatment with Galafold was associated with statistically significant (p<0.05) improvements versus placebo from baseline to month 6 in the diarrhoea domain, and in the reflux domain for patients with symptoms at baseline.
Croatian: U ispitivanju s bolesnicima koji prethodno nisu primali ERT, analize ljestvice za ocjenu gastrointestinalnih simptoma pokazale su da je liječenje lijekom Galafold bilo povezano sa statistički značajnim (p < 0,05) poboljšanjima u odnosu na skupinu koja je primala placebo od početka ispitivanja do 6. mjeseca u području proljeva te refluksa za bolesnike koji su imali simptome na početku ispitivanja.
English: c.611G>A or 612G>A
Croatian: c.611G>A ili 612G>A
English: Certain GLA mutations can result in the production of abnormally folded and unstable mutant forms of α-Gal A. Migalastat is a pharmacological chaperone that is designed to selectively and reversibly bind with high affinity to the active sites of certain mutant forms of -Gal A, the genotypes of which are referred to as amenable mutations.
Croatian: Migalastat je farmakološki šaperon koji je osmišljen kako bi se selektivno i reverzibilno te s visokim afinitetom vezao za aktivna mjesta određenih mutiranih oblika enzima -Gal A čiji genotipovi imaju mutacije koje omogućuju odgovor na liječenje.
English: c.442A>C or c.444T>A or c.444T>G
Croatian: c.442A>C ili c.444T>A ili c.444T>G
English: g.10237_11932del/11933_12083i nv/12084_12097del
Croatian: g.10237_11932del/11933_12083i nv/12084_12097del g.>5.5kbdel to 3UTR
English: The GLA mutations amenable and not amenable to treatment with Galafold are listed in Table 2 and Table 3 respectively below.
Croatian: Mutacije gena GLA koje omogućuju i koje isključuju odgovor na liječenje lijekom Galafold navedene su u tablici 2., odnosno tablici 3. u nastavku.
English: UNKNOWN (del Exon3 and 4?)
Croatian: NEPOZNATO (del Exon3 i 4?)
English: c.504A>C or c.504A>T
Croatian: c.504A>C ili c.504A>T
English: c.1095T>A or c.1095T>G c.T1095A or c.T1095G
Croatian: c.1095T>A ili c.1095T>G c.T1095A ili c.T1095G
English: c.C519A or c.C519G
Croatian: c.C519A ili c.C519G
English: Protein sequence change
Croatian: Promjena slijeda u proteinu
English: c.3G>A or c.3G>T or c.3G>C c.G3A or c.G3T or c.G3C
Croatian: c.3G>A ili c.3G>T ili c.3G>C c.G3A ili c.G3T ili c.G3C
English: c.1045T>C or c.1045T>A c.T1045C or c.T1045A
Croatian: c.1045T>C ili c.1045T>A c.T1045C ili c.T1045A
English: c.140G>A or 141G>A
Croatian: c.140G>A ili 141G>A
English: • Painful stiff neck
Croatian: • bolni ukočeni vrat (tortikolis)
English: Galafold is not indicated for use in patients with non-amenable mutations (see section 5.1).
Croatian: Galafold nije indiciran za primjenu u bolesnika s mutacijama koje isključuju odgovor na liječenje (vidjeti dio 5.1).
English: c.1034C>G or c.1034C>A c.C1034G or c.C1034A
Croatian: c.1034C>G ili c.1034C>A c.C1034G ili c.C1034A
English: c.216G>A or c.216G>T or c.216G>C
Croatian: c.216G>A ili c.216G>T ili c.216G>C
English: c.G412A or c.G412C
Croatian: c.G412A ili c.G412C
English: c.1023A >C or c.1023A>T
Croatian: c.1023A >C ili c.1023A>T
English: c.C207A or c.C207G
Croatian: c.C207A ili c.C207G
English: c.A124C or c.A124T
Croatian: c.A124C ili c.A124T
English: c.C816A or c.C816G
Croatian: c.C816A ili c.C816G
English: c.1046G>A or c.1047G>A c.G1046A or c.G1047A
Croatian: c.1046G>A ili c.1047G>A c.G1046A ili c.G1047A
English: c.T139C or c.T139A
Croatian: c.T139C ili c.T139A
English: c.1147T>C or c.1149C>G or c.1149C>A
Croatian: c.1147T>C ili c.1149C>G ili c.1149C>A
English: c.1065C>A or c.1065C>G c.C1065A or c.C1065G
Croatian: c.1065C>A ili c.1065C>G c.C1065A ili c.C1065G
English: The mean change from baseline in LVMi at Month 18 to 24 in patients with left ventricular hypertrophy at baseline (females with baseline LVMi > 95 g/m or males with baseline LVMi > 115 g/m 2) was -18.6 (95% CI: -38.2, 1.0; n=8).
Croatian: Srednja vrijednost promjene u odnosu na početnu vrijednost LVMi od 18. do 24. mjeseca u bolesnika s hipertrofijom lijevog ventrikula na početku (ženski bolesnici s početnom vrijednošću LVMi > 95 g/m ili muški bolesnici s početnom vrijednošću LVMi > 115 g/m2) iznosila je -18,6 (95 % CI: -38,2; 1,0; n = 8).
English: c.C159G or c.C159A
Croatian: c.C159G ili c.C159A
English: c.G216A or c.G216T or c.G216C M72I
Croatian: c.G216A ili c.G216T ili c.G216C M72I
English: c.G126A or c.G126C or c.G126T M42I
Croatian: c.G126A ili c.G126C ili c.G126T M42I
English: c.G228C or c.G228A or c.G228T M76I
Croatian: c.G228C ili c.G228A ili c.G228T M76I
English: c.148T>C or c.150C>G or c.150C>A
Croatian: c.148T>C ili c.150C>G ili c.150C>A
English: c.G284A or c.G285A
Croatian: c.G284A ili c.G285A
English: c.G103C or c.G103A
Croatian: c.G103C ili c.G103A
English: c.T241C or c.T241A
Croatian: c.T241C ili c.T241A
English: c.280T>A or c.281G>C
Croatian: c.280T>A ili c.281G>C
English: c.561G>T or c.561G>A or c.561G>C
Croatian: c.561G>T ili c.561G>A ili c.561G>C
English: c.C279G or c.C279A
Croatian: c.C279G ili c.C279A
English: g.941_5845del p.?
Croatian: g.941_5845del p.?(Exon1_2del)
English: c.924A>T or c.924A>C
Croatian: c.924A>T ili c.924A>C
English: The effect of age was evaluated in a population pharmacokinetic analysis on plasma migalastat clearance in the ERT-naïve study population.
Croatian: U analizi populacijske farmakokinetike ocijenjen je učinak dobi na klirens migalastata iz plazme u populaciji bolesnika koji nisu prethodno primali ERT.
English: Respiratory, thoracic, and mediastinal disorders
Croatian: Poremećaji dišnog sustava, prsišta i sredoprsja dispneja epistaksa
English: c.G140A or G141A
Croatian: c.G140A ili G141A
English: c.139T>C or c.139T>A
Croatian: c.139T>C ili c.139T>A
English: c.T187A or c.G188C
Croatian: c.T187A ili c.G188C
English: c.G982A or c.G982C
Croatian: c.G982A ili c.G982C
English: Hepatic impairment No dosage adjustment of Galafold is required in patients with hepatic impairment (see section 5.2).
Croatian: U bolesnika s oštećenjem jetre nije potrebna prilagodba doze lijeka Galafold (vidjeti dio 5.2).
English: c.412G>A or c.412G>C
Croatian: c.412G>A ili c.412G>C
English: c.G261C or c.G261T
Croatian: c.G261C ili c.G261T
English: Galafold is not recommended for use in patients with severe renal insufficiency, defined as estimated GFR less than 30 mL/min/1.73m
Croatian: Ne preporučuje se primjena lijeka Galafold u bolesnika s teškom bubrežnom insuficijencijom, definiranom procijenjenom vrijednosti GFR-a manjom od 30 mL/min/1,73m
English: c.159C>G or c.159C>A
Croatian: c.159C>G ili c.159C>A
English: c.G285T or c.G285C
Croatian: c.G285T ili c.G285C
English: c.G540C or c.G540T
Croatian: c.G540C ili c.G540T
English: c.153G>A or c.153G>T or c.153G>C
Croatian: c.153G>A ili c.153G>T ili c.153G>C
English: 92.9 g/m for the ERT arm and the mean change from baseline in LVMi at Month 18 was -6.6 (95% CI: -11.0, -2.1; n=31) for Galafold and -2.0 (95% CI: -11.0, 7.0; n=13) for ERT.
Croatian: 95,3 g/m za skupinu koja je primala Galafold i 92,9 g/m za skupinu koja je primala ERT, a srednja vrijednost promjene od početne vrijednosti u LVMi u 18. mjesecu bila je -6,6 (95 % Cl: -11,0; -2,1; n = 31) za Galafold i -2,0 (95 % Cl: -11,0; 7,0; n = 13) za ERT.
English: c.T881G or c.T881A
Croatian: c.T881G ili c.T881A
English: c.G612T or c.G612C
Croatian: c.G612T ili c.G612C
English: c.G131A or c.G132A
Croatian: c.G131A ili c.G132A
English: c.228G>C or c.228G>A or c.228G>T
Croatian: c.228G>C ili c.228G>A ili c.228G>T
English: c.817T>C or c.819T>A or c.819T>G
Croatian: c.817T>C ili c.819T>A ili c.819T>G
English: c.337T>C or c.339T>A or c.339T>G
Croatian: c.337T>C ili c.339T>A ili c.339T>G
English: c.G870A or c.G870C or c.G870T M290I
Croatian: c.G870A ili c.G870C ili c.G870T M290I
English: c.G471C or c.G471T
Croatian: c.G471C ili c.G471T
English: c.284G>A or c.285G>A
Croatian: c.284G>A ili c.285G>A
English: c.C525G or c.C525A
Croatian: c.C525G ili c.C525A
English: c.T166A or c.G167C
Croatian: c.T166A ili c.G167C
English: No reduction in proteinuria was observed in patients treated with Galafold.
Croatian: U bolesnika liječenih lijekom Galafold nije uočeno smanjenje proteinurije.
English: c.T552A or c.T552G
Croatian: c.T552A ili c.T552G
English: c.G242A or c.G243A
Croatian: c.G242A ili c.G243A
English: c.261G>C or c.261G>T
Croatian: c.261G>C ili c.261G>T
English: c.G734A or c.G735A
Croatian: c.G734A ili c.G735A
English: c.241T>C or c.241T>A
Croatian: c.241T>C ili c.241T>A
English: c.187T>A or c.188G>C
Croatian: c.187T>A ili c.188G>C
English: c.612G>T or c.612G>C
Croatian: c.612G>T ili c.612G>C
English: Psychiatric disorders
Croatian: Psihijatrijski poremećaji depresija
English: c.C233G or c.C233A
Croatian: c.C233G ili c.C233A
English: c.124A>C or c.124A>T
Croatian: c.124A>C ili c.124A>T
English: c.C305G or c.C305A
Croatian: c.C305G ili c.C305A
English: c.552T>A or c.552T>G
Croatian: c.552T>A ili c.552T>G
English: c.G132T or c.G132C
Croatian: c.G132T ili c.G132C
English: c.G1074T or c.G1074C
Croatian: c.G1074T ili c.G1074C
English: c.G243T or c.G243C
Croatian: c.G243T ili c.G243C
English: c.242G>A or c.243G>A
Croatian: c.242G>A ili c.243G>A
English: Headache and dizziness were the most common adverse reactions reported at doses of Galafold of up to 1250 mg and 2000 mg, respectively.
Croatian: Najčešća nuspojava zabilježena pri dozama lijeka Galafold od najviše 1250 mg bila je glavobolja, odnosno pri dozama od najviše 2000 mg omaglica.
English: If more than 12 hours has passed you should resume taking Galafold at the next planned dosing day and time according to your every other day dosing schedule.. Do not take two capsules to make up for your missed dose.
Croatian: Ako je prošlo više od 12 sati, trebate nastaviti uzimati Galafold onog dana i u ono doba za koje je predviđena sljedeća doza u skladu s rasporedom doziranja svakog drugog dana.
English: c.G1081A or c.G1081C
Croatian: c.G1081A ili c.G1081C
English: c.G888A or c.G888T or c.G888C M296I
Croatian: c.G888A ili c.G888T ili c.G888C M296I
English: UNKNOWN (del Exon3?)
Croatian: NEPOZNATO (del Exon3?)
English: c.T258G or c.T258A
Croatian: c.T258G ili c.T258A
English: c.471G>C or c.471G>T
Croatian: c.471G>C ili c.471G>T
English: c.285G>T or c.285G>C
Croatian: c.285G>T ili c.285G>C
English: c.C747G or c.C747A
Croatian: c.C747G ili c.C747A
English: c.279C>G or c.279C>A
Croatian: c.279C>G ili c.279C>A
English: c.T960G or c.T960A
Croatian: c.T960G ili c.T960A
English: c.207C>A or c.207C>G
Croatian: c.207C>A ili c.207C>G
English: c.982G>A or c.982G>C
Croatian: c.982G>A ili c.982G>C
English: c.519C>A or c.519C>G
Croatian: c.519C>A ili c.519C>G
English: c.C453G or c.C453A
Croatian: c.C453G ili c.C453A
English: c.G609C or c.G609T
Croatian: c.G609C ili c.G609T
English: Galafold is not recommended for use in patients with Fabry disease who have estimated GFR less than 30 mL/min/1.73 m
Croatian: Ne preporučuje se primjena lijeka Galafold u bolesnika s Fabryjevom bolešću kod kojih je procijenjena vrijednost GFR-a manja od 30 mL/min/1,73 m
English: c.A840T or c.A840C
Croatian: c.A840T ili c.A840C
English: c.131G>A or c.132G>A
Croatian: c.131G>A ili c.132G>A
English: c.233C>G or c.233C>A
Croatian: c.233C>G ili c.233C>A
English: c.T280A or c.G281C
Croatian: c.T280A ili c.G281C
English: c.G567C or c.G567T
Croatian: c.G567C ili c.G567T
English: c.243G>T or c.243G>C
Croatian: c.243G>T ili c.243G>C
English: c.G144T or c.G144C
Croatian: c.G144T ili c.G144C
English: • Stomach ache
Croatian: • suha usta
English: c.T610C or c.T610A
Croatian: c.T610C ili c.T610A
English: c.T514A or c.G515C
Croatian: c.T514A ili c.G515C
English: c.1081G>A or c.1081G>C
Croatian: c.1081G>A ili c.1081G>C
English: c.1074G>T or c.1074G>C
Croatian: c.1074G>T ili c.1074G>C
English: c.816C>A or c.816C>G
Croatian: c.816C>A ili c.816C>G
English: c.G288A or c.G288T or c.G288C M96I
Croatian: c.G288A ili c.G288T ili c.G288C M96I
English: c.258T>G or c.258T>A
Croatian: c.258T>G ili c.258T>A
English: c.525C>G or c.525C>A
Croatian: c.525C>G ili c.525C>A
English: c.T859C or c.T859A
Croatian: c.T859C ili c.T859A
English: c.A588T or c.A588C
Croatian: c.A588T ili c.A588C
English: c.C897G or c.C897A
Croatian: c.C897G ili c.C897A
English: Lot
Croatian: Louth
English: c.540G>C or c.540G>T
Croatian: c.540G>C ili c.540G>T
English: c.132G>T or c.132G>C
Croatian: c.132G>T ili c.132G>C
English: UNKNOWN (del Exon1_2?)
Croatian: NEPOZNATO (del Exon1_2?)
English: c.T408A or c.T408G
Croatian: c.T408A ili c.T408G
English: c.T154A or c.G155C
Croatian: c.T154A ili c.G155C
English: c.166T>A or c.167G>C
Croatian: c.166T>A ili c.167G>C
English: UNKNOWN (del Exon5_7?)
Croatian: NEPOZNATO (del Exon5_7?)
English: c.G831T or c.G831C
Croatian: c.G831T ili c.G831C
English: c.609G>C or c.609G>T
Croatian: c.609G>C ili c.609G>T
English: c.103G>C or c.103G>A
Croatian: c.103G>C ili c.103G>A
English: c.T369G or c.T369A
Croatian: c.T369G ili c.T369A
English: c.960T>G or c.960T>A
Croatian: c.960T>G ili c.960T>A
English: c.G141C or c.G141T
Croatian: c.G141C ili c.G141T
English: c.881T>G or c.881T>A
Croatian: c.881T>G ili c.881T>A
English: c.G830A or c.G831A
Croatian: c.G830A ili c.G831A
English: c.707G>A or c.708G>A
Croatian: c.707G>A ili c.708G>A
English: Paraesthesia Dizziness Hypoaesthesia
Croatian: Poremećaji živčanog sustava glavobolja parestezija omaglica hipoestezija
English: c.305C>G or c.305C>A
Croatian: c.305C>G ili c.305C>A
English: c.144G>T or c.144G>C
Croatian: c.144G>T ili c.144G>C
English: c.G860A or c.G861A
Croatian: c.G860A ili c.G861A
English: c.141G>C or c.141G>T
Croatian: c.141G>C ili c.141G>T
English: c.T465A or c.T465G
Croatian: c.T465A ili c.T465G
English: c.453C>G or c.453C>A
Croatian: c.453C>G ili c.453C>A
English: c.108G>C or c.108G>T
Croatian: c.108G>C ili c.108G>T
English: c.610T>C or c.610T>A
Croatian: c.610T>C ili c.610T>A
English: c.567G>C or c.567G>T
Croatian: c.567G>C ili c.567G>T
English: c.G485A or c.G486A
Croatian: c.G485A ili c.G486A
English: Dyspnoea Epistaxis
Croatian: Prijavljivanje nuspojava
English: c.C966A or c.C966G
Croatian: c.C966A ili c.C966G
English: c.C456A or c.C456G
Croatian: c.C456A ili c.C456G
English: c.830G>A or c.831G>A
Croatian: c.830G>A ili c.831G>A
English: c.G71A or c.G72A
Croatian: c.G71A ili c.G72A
English: c.888G>A or c.888G>T or c.888G>C
Croatian: c.888G>A ili c.888G>T ili c.888G>C
English: • Indigestion (dyspepsia)
Croatian: • trnci u udovima (parestezija)
English: c.T676C or c.T676A
Croatian: c.T676C ili c.T676A
English: c.734G>A or c.735G>A
Croatian: c.734G>A ili c.735G>A
English: After follow up in the OLE, the mean change from baseline in LVMi at Month 36 was -8.3 (95% CI: -17.1, 0.4; n=25) and at Month 48 was -9.1 (95% CI: -20.3, 2.0; n=18).
Croatian: Nakon praćenja u otvorenom nastavku ispitivanja, srednja vrijednost promjene u odnosu na početnu vrijednost LVMi u 36. mjesecu iznosila je -8,3 (95 % CI: -17,1; 0,4; n = 25), a u 48. mjesecu iznosila je -9,1 (95 % CI: -20,3; 2,0; n = 18).
English: c.870G>A or c.870G>C or c.870G>T
Croatian: c.870G>A ili c.870G>C ili c.870G>T
English: c.G108C or c.G108T
Croatian: c.G108C ili c.G108T
English: c.G439A or c.G439C
Croatian: c.G439A ili c.G439C
English: c.G861C or c.G861T
Croatian: c.G861C ili c.G861T
English: c.859T>C or c.859T>A
Croatian: c.859T>C ili c.859T>A
English: c.860G>A or c.861G>A
Croatian: c.860G>A ili c.861G>A
English: After follow up in the OLE, the mean change from baseline in LVMi in patients with left ventricular hypertrophy at baseline at Month 36 was -30.0 (95%) CI: -57.9, -2.2; n=4) and at Month 48
Croatian: Nakon praćenja u otvorenom nastavku ispitivanju, srednja vrijednost promjene u odnosu na početnu vrijednost LVMi u bolesnika s hipertrofijom lijevog ventrikula na početku u 36. mjesecu iznosila je -30,0 (95 % CI: -57,9; -2,2; n = 4), a u 48. mjesecu iznosila je -33,1 (95 % CI: -60,9; -5,4; n = 4).
English: c.831G>T or c.831G>C
Croatian: c.831G>T ili c.831G>C
English: c.G394A or c.G394C
Croatian: c.G394A ili c.G394C
English: c.T648A or c.T648G
Croatian: c.T648A ili c.T648G
English: c.485G>A or c.486G>A
Croatian: c.485G>A ili c.486G>A
English: c.439G>A or c.439G>C
Croatian: c.439G>A ili c.439G>C
English: c.966C>A or c.966C>G
Croatian: c.966C>A ili c.966C>G
English: c.514T>A or c.515G>C
Croatian: c.514T>A ili c.515G>C
English: c.G486C or c.G486T
Croatian: c.G486C ili c.G486T
English: c.897C>G or c.897C>A
Croatian: c.897C>G ili c.897C>A
English: In a single dose study with Galafold in non-Fabry subjects with varying degrees of renal insufficiency, exposures were increased by 4.3-fold in subjects with severe renal impairment (GFR < 30 mL/min/1.73 m
Croatian: Galafold nije ispitivan u bolesnika s Fabryjevom bolešću koji imaju GFR manji od 30 ml/min/1,73 m U ispitivanju koje je uključivalo davanje jedne doze Galafolda u ispitanika koji nisu imali Fabryjevu bolest s različitim stupnjevima bubrežne insuficijencije, izloženosti su se povećale 4,3 puta u ispitanika s teškim oštećenjem bubrega (GFR < 30 ml/min/1,73 m
English: c.465T>A or c.465T>G
Croatian: c.465T>A ili c.465T>G
English: c.861G>C or c.861G>T
Croatian: c.861G>C ili c.861G>T
English: c.A868C or c.A868T
Croatian: c.A868C ili c.A868T
English: c.394G>A or c.394G>C
Croatian: c.394G>A ili c.394G>C
English: After an average of 3.4 years of treatment, the mean annualised rate of change in eGFRCKD-EPI was -0.74 mL/min/1.73 m
Croatian: Nakon prosječnog razdoblja od 3,4 godine liječenja, srednja godišnja stopa promjene u eGFRCKD-EPI iznosila je -0,74 mL/min/1,73 m2 (95 % CI: -1,89; 0,40; n = 41).
English: c.T667A or c.G668C
Croatian: c.T667A ili c.G668C
English: c.588A>T or c.588A>C
Croatian: c.588A>T ili c.588A>C
English: c.408T>A or c.408T>G
Croatian: c.408T>A ili c.408T>G
English: c.154T>A or c.155G>C
Croatian: c.154T>A ili c.155G>C
English: c.C666A or c.C666G
Croatian: c.C666A ili c.C666G
English: c.71G>A or c.72G>A
Croatian: c.71G>A ili c.72G>A
English: c.T834G or c.T834A
Croatian: c.T834G ili c.T834A
English: c.102T>G or c.102T>A
Croatian: c.102T>G ili c.102T>A
English: c.T70C or c.T70A
Croatian: c.T70C ili c.T70A
English: c.T102G or c.T102A
Croatian: c.T102G ili c.T102A
English: c.288G>A or c.288G>T or c.288G>C
Croatian: c.288G>A ili c.288G>T ili c.288G>C
English: c.T894G or c.T894A
Croatian: c.T894G ili c.T894A
English: c.G837C or c.G837T
Croatian: c.G837C ili c.G837T
English: c.708G>C or c.708G>T
Croatian: c.708G>C ili c.708G>T
English: c.837G>C or c.837G>T
Croatian: c.837G>C ili c.837G>T
English: g.?_?dup c.?_?dup
Croatian: Promjena slijeda u proteinu g.?_?dup c.?_?dup
English: c.G963C or c.G963T
Croatian: c.G963C ili c.G963T
English: c.784T>A or c.784T>C
Croatian: c.784T>A ili c.784T>C
English: c.T687A or c.T687G
Croatian: c.T687A ili c.T687G
English: c.676T>C or c.676T>A
Croatian: c.676T>C ili c.676T>A
English: c.T402G or c.T402A
Croatian: c.T402G ili c.T402A
English: c.G936T or c.G936C
Croatian: c.G936T ili c.G936C
English: c.369T>G or c.369T>A
Croatian: c.369T>G ili c.369T>A
English: c.T484C or c.T484A
Croatian: c.T484C ili c.T484A
English: c.747C>G or c.747C>A
Croatian: c.747C>G ili c.747C>A
English: UNKNOWN (del Exon3_7?)
Croatian: NEPOZNATO (del Exon3_7?)
English: BLISTER SLEEVE
Croatian: BLISTER KARTICA
English: Galafold 123 mg hard capsules Migalastat
Croatian: Galafold 123 mg tvrde kapsule migalastat
English: c.456C>A or c.456C>G
Croatian: c.456C>A ili c.456C>G
English: c.G707A or c.G708A
Croatian: c.G707A ili c.G708A
English: c.70T>C or c.70T>A
Croatian: c.70T>C ili c.70T>A
English: c.G772C or c.G772A
Croatian: c.G772C ili c.G772A
English: c.G978C or c.G978T
Croatian: c.G978C ili c.G978T
English: Disease Substrate
Croatian: Supstrat bolesti
English: c.486G>C or c.486G>T
Croatian: c.486G>C ili c.486G>T
English: c.840A>T or c.840A>C
Croatian: c.840A>T ili c.840A>C
English: c.G720C or c.G720T
Croatian: c.G720C ili c.G720T
English: UNKNOWN (del Exon2_3?)
Croatian: NEPOZNATO (del Exon2_3?)
English: c.G778C or c.G778A
Croatian: c.G778C ili c.G778A
English: c.834T>G or c.834T>A
Croatian: c.834T>G ili c.834T>A
English: c.T784A or c.T784C
Croatian: c.T784A ili c.T784C
English: c.720G>C or c.720G>T
Croatian: c.720G>C ili c.720G>T
English: c.729G>C or c.729G>T
Croatian: c.729G>C ili c.729G>T
English: c.G729C or c.G729T
Croatian: c.G729C ili c.G729T
English: c.G708C or c.G708T
Croatian: c.G708C ili c.G708T
English: c.402T>G or c.402T>A
Croatian: c.402T>G ili c.402T>A
English: c.978G>C or c.978G>T
Croatian: c.978G>C ili c.978G>T
English: c.A886T or c.A886C
Croatian: c.A886T ili c.A886C
English: c.72G>C or c.72G>T
Croatian: c.72G>C ili c.72G>T
English: c.T706C or c.T706A
Croatian: c.T706C ili c.T706A
English: c.894T>G or c.894T>A
Croatian: c.894T>G ili c.894T>A
English: c.648T>A or c.648T>G
Croatian: c.648T>A ili c.648T>G
English: c.G785A or c.G786A
Croatian: c.G785A ili c.G786A
English: c.868A>C or c.868A>T
Croatian: c.868A>C ili c.868A>T
English: c.G678T or c.G678C
Croatian: c.G678T ili c.G678C
English: c.484T>C or c.484T>A
Croatian: c.484T>C ili c.484T>A
English: c.702T>G or c.702T>A
Croatian: c.702T>G ili c.702T>A
English: c.677G>A or c.678G>A
Croatian: c.677G>A ili c.678G>A
English: c.772G>C or c.772G>A
Croatian: c.772G>C ili c.772G>A
English: c.666C>A or c.666C>G
Croatian: c.666C>A ili c.666C>G
English: c.678G>T or c.678G>C
Croatian: c.678G>T ili c.678G>C
English: c.G72C or c.G72T
Croatian: c.G72C ili c.G72T
English: c.706T>C or c.706T>A
Croatian: c.706T>C ili c.706T>A
English: c.T702G or c.T702A
Croatian: c.T702G ili c.T702A
English: c.785G>A or c.786G>A
Croatian: c.785G>A ili c.786G>A
English: c.778G>C or c.778G>A
Croatian: c.778G>C ili c.778G>A
English: Galafold 123 mg hard capsules
Croatian: Galafold 123 mg tvrde kapsule
English: c.G786C or c.G786T
Croatian: c.G786C ili c.G786T
English: c.936G>T or c.936G>C
Croatian: c.936G>T ili c.936G>C
English: c.667T>A or c.668G>C
Croatian: c.667T>A ili c.668G>C
English: c.G677A or c.G678A
Croatian: c.G677A ili c.G678A
English: c.963G>C or c.963G>T
Croatian: c.963G>C ili c.963G>T
English: c.687T>A or c.687T>G
Croatian: c.687T>A ili c.687T>G
English: Protein Sequence change p.T412Sfs*37
Croatian: p.T412Sfs*37
English: Protein Sequence change c.744delT
Croatian: Promjena slijeda u proteinu c.256delT
English: c.786G>C or c.786G>T
Croatian: c.786G>C ili c.786G>T
English: Protein sequence change c.126G>A or c.126G>C or c.126G>T
Croatian: c.126G>A ili c.126G>C ili c.126G>T
English: c.T798A or c.T798G
Croatian: c.T798A ili c.T798G
English: (dyspnoea)
Croatian: (dispepsija)
English: c.886A>T or c.886A>C
Croatian: c.886A>T ili c.886A>C
English: c.798T>A or c.798T>G
Croatian: c.798T>A ili c.798T>G
English: c.789T>A or c.789T>G
Croatian: c.789T>A ili c.789T>G
English: c.T789A or c.T789G
Croatian: c.T789A ili c.T789G
English: In the ERT-naïve trial, Galafold resulted in a statistically significant decrease in LVMi (p< 0.05); the mean change from baseline in LVMi at Month 18 to 24 was -7.7 (95% CI: -15.4, -0.01; n=27).
Croatian: U ispitivanju s bolesnicima koji nisu prethodno primali ERT, Galafold je doveo do statistički značajnog smanjenja LVMi (p < 0,05); srednja vrijednost promjene u odnosu na početnu vrijednost LVMi od 18. do 24. mjeseca iznosila je -7,7 (95 % CI: -15,4; -0,01; n = 27).
English: (paraesthesia)
Croatian: (dispneja)
English: Amicus Therapeutics GmbH Tel.: + 49 89 2488 79810 / 0800 000 2038 E-Mail: MedInfo@amicusrx.com
Croatian: + 49 89 2488 79810 / 0800 000 2038 E-Mail: MedInfo@amicusrx.com
English: Musculoskeletal and connective tissue disorders
Croatian: Poremećaji bubrega i mokraćnog sustava proteinurija
English: Defaecation urgency Dyspepsia
Croatian: Poremećaji probavnog sustava proljev mučnina bol u trbuhu zatvor suha usta urgencija za defekaciju dispepsija
English: (torticollis)
Croatian: (pruritus)
English: During the open-label extension, statistically significant (p<0.05) improvements from baseline were observed in the diarrhoea and indigestion domains, with a trend of improvement in the constipation domain.
Croatian: u odnosu na početnu vrijednost primijećena su u području proljeva i probavnih tegoba, uz trend poboljšanja u području konstipacije.