FrancophonIA/ELRC3.0 huggingface dataset:
English: Galafold should not be taken on 2 consecutive days.
Italian: Galafold non deve essere assunto per due giorni consecutivi.
English: c.T148C or c.C150G or c.C150A F50L
Italian: c.T148C o c.C150G o c.C150A F50L
English: g.6736_11545del c.370-533_c.1290+277del
Italian: NON NOTO (del Exon3 e g.6736_11545del c.370-533_c.1290+277del
English: c.G561T or c.G561A or c.G561C M187I
Italian: c.G561T o c.G561A o c.G561C M187I
English: g.[10237_11932del; 11933_12083inv; 12084_12097del]
Italian: Cambio di sequenza proteica g.[10237_11932del; 11933_12083inv; 12084_12097del]
English: c.T1147C or c.C1149G or c.C1149A
Italian: c.T1147C o c.C1149G o c.C1149A
English: You may get a headache and feel dizzy.
Italian: Può avere cefalea e capogiri.
English: c.G153A or c.G153T or c.G153C M51I
Italian: c.G153A o c.G153T o c.G153C M51I
English: How to store Galafold
Italian: Come conservare Galafold
English: c.A712C or c.T714A or c.T714G S238R
Italian: c.A712C o c.T714A o c.T714G S238R
English: c.G611A or G612A
Italian: c.G611A o G612A
English: • Muscle pain (myalgia)
Italian: • Dolore muscolare (mialgia)
English: c.T337C or c.T339A or c.T339G F113L
Italian: c.T337C o c.T339A o c.T339G F113L
English: c.369+3_639+954del3129insT UNKNOWN (del Exon3 and 4?)
Italian: c.369+3_639+954del3129insT NON NOTO (del Exon3 e g.6009_9741del
English: c.A504C or c.A504T
Italian: c.A504C o c.A504T
English: Talk to your doctor before taking Galafold if you are currently taking enzyme replacement therapy.
Italian: Avvertenze e precauzioni Si rivolga al medico prima di prendere Galafold se segue una terapia enzimatica sostitutiva.
English: c.T817C or c.T819A or c.T819G F273L
Italian: c.T817C o c.T819A o c.T819G F273L
English: c.1046G>A or c.1047G>A c.G1046A or c.G1047A
Italian: c.1046G>A o c.1047G>A c.G1046A o c.G1047A
English: Protein Sequence change c.1A>C or c.1A>T
Italian: Cambio di sequenza proteica c.1A>C o c.1A>T
English: c.712A>C or c.714T>A or c.714T>G
Italian: c.712A>C o c.714T>A o c.714T>G
English: c.A924T or c.A924C
Italian: c.A924T o c.A924C
English: C]-migalastat hydrochloride revealed that approximately 77% of the radiolabeled dose was recovered in urine of which 55% of was excreted as unchanged migalastat and 4% as combined metabolites M1, M2 and M3.
Italian: Il 55% della dose è stata escreta come migalastat invariato e il 4% come metaboliti combinati M1, M2 e M3.
English: Galafold is not intended for concomitant use with enzyme replacement therapy.
Italian: L'uso concomitante di Galafold con la terapia enzimatica sostitutiva non è indicato.
English: c.611G>A or 612G>A
Italian: c.611G>A o 612G>A
English: In the ERT-experienced trial, plasma lyso-Gb3 levels slightly increased but remained low in patients with amenable mutations treated with Galafold for the 30 month duration of the study.
Italian: Nello studio su pazienti pretrattati con ERT, i livelli plasmatici di liso-Gb3 sono leggermente aumentati, pur rimanendo bassi, in pazienti con mutazioni suscettibili trattati con Galafold per la durata dello studio (30 mesi), I livelli plasmatici di liso-Gb3 sono rimasti bassi anche in pazienti in terapia con ERT fino a 18 mesi.
English: c.3G>A or c.3G>T or c.3G>C c.G3A or c.G3T or c.G3C
Italian: c.3G>A o c.3G>T o c.3G>C c.G3A o c.G3T o c.G3C
English: c.140G>A or 141G>A
Italian: c.140G>A o 141G>A
English: c.A442C or c.T444A or c.T444G S148R
Italian: c.A442C o c.T444A o c.T444G S148R
English: c.1023A >C or c.1023A>T
Italian: c.1023A >C o c.1023A>T
English: c.442A>C or c.444T>A or c.444T>G
Italian: c.442A>C o c.444T>A o c.444T>G
English: c.T139C or c.T139A
Italian: c.T139C o c.T139A
English: Galafold has not been studied in patients with Fabry disease who have a GFR less than 30 mL/min/1.73 m2.
Italian: Galafold non è stato studiato in pazienti con malattia di Fabry con GFR inferiore a 30 mL/min/1,73 m2.
English: c.216G>A or c.216G>T or c.216G>C
Italian: c.216G>A o c.216G>T o c.216G>C
English: c.G126A or c.G126C or c.G126T M42I
Italian: c.G126A o c.G126C o c.G126T M42I
English: c.C816A or c.C816G
Italian: c.C816A o c.C816G
English: c.C159G or c.C159A
Italian: c.C159G o c.C159A
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).
Italian: Nello studio su pazienti non trattati con ERT, Galafold ha prodotto una riduzione statisticamente significativa del LVMi (p< 0,05); la variazione media dell'indice LVMi dal valore basale ai mesi 18-24 era -7,7 (95% CI: -15,4, -0,01; n=27).
English: c.504A>C or c.504A>T
Italian: c.504A>C o c.504A>T
English: c.148T>C or c.150C>G or c.150C>A
Italian: c.148T>C o c.150C>G o c.150C>A
English: c.G216A or c.G216T or c.G216C M72I
Italian: c.G216A o c.G216T o c.G216C M72I
English: c.561G>T or c.561G>A or c.561G>C
Italian: c.561G>T o c.561G>A o c.561G>C
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).
Italian: La variazione media dell'indice LVMi dal valore basale ai mesi 18-24, in pazienti con ipertrofia ventricolare sinistra al basale (femmine con LVMi basale > 95 g/m2 o maschi con LVMi basale > 115 g/m2-) era -18,6 (95% CI: -38,2, 1,0; n=8).
English: c.A124C or c.A124T
Italian: c.A124C o c.A124T
English: Hepatic impairment No dosage adjustment of Galafold is required in patients with hepatic impairment (see section 5.2).
Italian: Non è necessario un aggiustamento della dose di Galafold in pazienti con compromissione epatica (vedere paragrafo 5.2).
English: c.G140A or G141A
Italian: c.G140A o G141A
English: c.G284A or c.G285A
Italian: c.G284A o c.G285A
English: c.G870A or c.G870C or c.G870T M290I
Italian: c.G870A o c.G870C o c.G870T M290I
English: c.G412A or c.G412C
Italian: c.G412A o c.G412C
English: c.G228C or c.G228A or c.G228T M76I
Italian: c.G228C o c.G228A o c.G228T M76I
English: c.C519A or c.C519G
Italian: c.C519A o c.C519G
English: A pharmacokinetic trial in healthy male volunteers with 150 mg [
Italian: Uno studio farmacocinetico condotto su volontari maschi sani con 150 mg [14C]-migalastat HCl ha rivelato che il
English: c.G261C or c.G261T
Italian: c.G261C o c.G261T
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).
Italian: In seguito, nello studio di estensione, la variazione media dell'indice LVMi dal valore basale al mese 36 era -8,3 (95% CI: -17,1, 0,4; n=25) e al mese 48 era9,1 (95% CI: -20,3, 2,0; n=18).
English: c.T241C or c.T241A
Italian: c.T241C o c.T241A
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.
Italian: I valori al basale erano 95,3 g/m2 per il braccio Galafold e 92,9 g/m2 per il braccio ERT e la variazione media rispetto al basale dell'indice LVMi al Mese 18 era pari a -6,6 (95% CI: -11,0, -2,1; n=31) per Galafold e -2,0 (95% CI: -11,0, 7,0; n=13) per ERT.
English: c.924A>T or c.924A>C
Italian: c.924A>T o c.924A>C
English: c.159C>G or c.159C>A
Italian: c.159C>G o c.159C>A
English: c.280T>A or c.281G>C
Italian: c.280T>A o c.281G>C
English: c.817T>C or c.819T>A or c.819T>G
Italian: c.817T>C o c.819T>A o c.819T>G
English: In the ERT-experienced trial, following 18 months of treatment with Galafold there was a statistically significant decrease in LVMi (p< 0.05).
Italian: Nello studio su pazienti pretrattati con ERT, è stata riscontrata una riduzione statisticamente significativa dell'indice LVMi (p< 0,05) dopo 18 mesi di trattamento con Galafold.
English: c.C279G or c.C279A
Italian: c.C279G o c.C279A
English: c.T881G or c.T881A
Italian: c.T881G o c.T881A
English: c.153G>A or c.153G>T or c.153G>C
Italian: c.153G>A o c.153G>T o c.153G>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
Italian: Dopo una media di 3,4 anni di trattamento, il tasso di variazione annualizzato medio del eGFRCKD-EPI era -0,74 mL/min/1,73 m2 (95% CI: -1,89, 0,40; n=41).
English: c.G982A or c.G982C
Italian: c.G982A o c.G982C
English: c.228G>C or c.228G>A or c.228G>T
Italian: c.228G>C o c.228G>A o c.228G>T
English: c.G540C or c.G540T
Italian: c.G540C o c.G540T
English: c.T187A or c.G188C
Italian: c.T187A o c.G188C
English: c.C525G or c.C525A
Italian: c.C525G o c.C525A
English: c.G103C or c.G103A
Italian: c.G103C o c.G103A
English: c.412G>A or c.412G>C
Italian: c.412G>A o c.412G>C
English: If you are planning to have a baby, ask your doctor, pharmacist, or nurse for advice.
Italian: Se sta pianificando una gravidanza, chieda consiglio al medico, al farmacista o all'infermiere.
English: c.187T>A or c.188G>C
Italian: c.187T>A o c.188G>C
English: c.C233G or c.C233A
Italian: c.C233G o c.C233A
English: c.C207A or c.C207G
Italian: c.C207A o c.C207G
English: c.T166A or c.G167C
Italian: c.T166A o c.G167C
English: c.G242A or c.G243A
Italian: c.G242A o c.G243A
English: c.G285T or c.G285C
Italian: c.G285T o c.G285C
English: It is advised to periodically monitor renal function, echocardiographic parameters and biochemical markers (every 6 months) in patients initiated on or switched to Galafold.
Italian: Nei pazienti che hanno iniziato o che sono passati alla terapia con Galafold si consiglia di monitorare periodicamente la funzione renale, i parametri ecocardiografici e i marker biochimici (ogni 6 mesi).
English: c.G471C or c.G471T
Italian: c.G471C o c.G471T
English: c.G131A or c.G132A
Italian: c.G131A o c.G132A
English: c.552T>A or c.552T>G
Italian: c.552T>A o c.552T>G
English: c.337T>C or c.339T>A or c.339T>G
Italian: c.337T>C o c.339T>A o c.339T>G
English: c.284G>A or c.285G>A
Italian: c.284G>A o c.285G>A
English: If you are pregnant, think you may be pregnant, or are planning to have a baby, do not take this medicine until you have checked with your doctor, pharmacist, or nurse.
Italian: Se è in corso una gravidanza oppure se sospetta o sta pianificando una gravidanza chieda consiglio al medico o al farmacista o all'infermiere prima di prendere questo medicinale.
English: c.285G>T or c.285G>C
Italian: c.285G>T o c.285G>C
English: c.C305G or c.C305A
Italian: c.C305G o c.C305A
English: c.124A>C or c.124A>T
Italian: c.124A>C o c.124A>T
English: c.241T>C or c.241T>A
Italian: c.241T>C o c.241T>A
English: c.519C>A or c.519C>G
Italian: c.519C>A o c.519C>G
English: c.G734A or c.G735A
Italian: c.G734A o c.G735A
English: c.612G>T or c.612G>C
Italian: c.612G>T o c.612G>C
English: c.207C>A or c.207C>G
Italian: c.207C>A o c.207C>G
English: c.G612T or c.G612C
Italian: c.G612T o c.G612C
English: c.C747G or c.C747A
Italian: c.C747G o c.C747A
English: c.G888A or c.G888T or c.G888C M296I
Italian: c.G888A o c.G888T o c.G888C M296I
English: c.T258G or c.T258A
Italian: c.T258G o c.T258A
English: c.471G>C or c.471G>T
Italian: c.471G>C o c.471G>T
English: c.G1081A or c.G1081C
Italian: c.G1081A o c.G1081C
English: c.242G>A or c.243G>A
Italian: c.242G>A o c.243G>A
English: c.T552A or c.T552G
Italian: c.T552A o c.T552G
English: c.982G>A or c.982G>C
Italian: c.982G>A o c.982G>C
English: c.G1074T or c.G1074C
Italian: c.G1074T o c.G1074C
English: c.C897G or c.C897A
Italian: c.C897G o c.C897A
English: c.G288A or c.G288T or c.G288C M96I
Italian: c.G288A o c.G288T o c.G288C M96I
English: c.131G>A or c.132G>A
Italian: c.131G>A o c.132G>A
English: c.T960G or c.T960A
Italian: c.T960G o c.T960A
English: c.G609C or c.G609T
Italian: c.G609C o c.G609T
English: c.816C>A or c.816C>G
Italian: c.816C>A o c.816C>G
English: UNKNOWN (del Exon5_7?)
Italian: NON NOTO (del Exon5_7?)
English: c.A840T or c.A840C
Italian: c.A840T o c.A840C
English: c.G567C or c.G567T
Italian: c.G567C o c.G567T
English: c.1074G>T or c.1074G>C
Italian: c.1074G>T o c.1074G>C
English: c.132G>T or c.132G>C
Italian: c.132G>T o c.132G>C
English: UNKNOWN (del Exon1_2?)
Italian: NON NOTO (del Exon1_2?)
English: c.279C>G or c.279C>A
Italian: c.279C>G o c.279C>A
English: c.T154A or c.G155C
Italian: c.T154A o c.G155C
English: c.C453G or c.C453A
Italian: c.C453G o c.C453A
English: Galafold is not recommended for use in patients with severe renal insufficiency, defined as estimated GFR less than 30 mL/min/1.73m
Italian: L'uso di Galafold non è raccomandato in pazienti con severa insufficienza renale, definita da un tasso di filtrazione glomerulare stimato inferiore a 30 mL/min/1,73m2 (vedere paragrafo 5.2).
English: c.G144T or c.G144C
Italian: c.G144T o c.G144C
English: c.T610C or c.T610A
Italian: c.T610C o c.T610A
English: c.1081G>A or c.1081G>C
Italian: c.1081G>A o c.1081G>C
English: c.G132T or c.G132C
Italian: c.G132T o c.G132C
English: UNKNOWN (del Exon3?)
Italian: NON NOTO (del Exon3?)
English: c.G243T or c.G243C
Italian: c.G243T o c.G243C
English: c.525C>G or c.525C>A
Italian: c.525C>G o c.525C>A
English: c.T514A or c.G515C
Italian: c.T514A o c.G515C
English: c.233C>G or c.233C>A
Italian: c.233C>G o c.233C>A
English: c.243G>T or c.243G>C
Italian: c.243G>T o c.243G>C
English: c.540G>C or c.540G>T
Italian: c.540G>C o c.540G>T
English: While taking Galafold you should use effective birth control.
Italian: Durante la terapia con Galafold è necessario usare un metodo contraccettivo efficace.
English: c.T280A or c.G281C
Italian: c.T280A o c.G281C
English: c.G141C or c.G141T
Italian: c.G141C o c.G141T
English: c.144G>T or c.144G>C
Italian: c.144G>T o c.144G>C
English: c.141G>C or c.141G>T
Italian: c.141G>C o c.141G>T
English: c.T859C or c.T859A
Italian: c.T859C o c.T859A
English: c.258T>G or c.258T>A
Italian: c.258T>G o c.258T>A
English: c.A588T or c.A588C
Italian: c.A588T o c.A588C
English: c.881T>G or c.881T>A
Italian: c.881T>G o c.881T>A
English: Galafold is to be taken every other day.
Italian: Galafold deve essere assunto a giorni alterni.
English: c.707G>A or c.708G>A
Italian: c.707G>A o c.708G>A
English: c.610T>C or c.610T>A
Italian: c.610T>C o c.610T>A
English: c.166T>A or c.167G>C
Italian: c.166T>A o c.167G>C
English: Table 2: Galafold (migalastat) amenability table
Italian: Tabella 2: mutazioni suscettibili a Galafold (migalastat)
English: c.108G>C or c.108G>T
Italian: c.108G>C o c.108G>T
English: c.T369G or c.T369A
Italian: c.T369G o c.T369A
English: c.609G>C or c.609G>T
Italian: c.609G>C o c.609G>T
English: c.305C>G or c.305C>A
Italian: c.305C>G o c.305C>A
English: c.830G>A or c.831G>A
Italian: c.830G>A o c.831G>A
English: c.G831T or c.G831C
Italian: c.G831T o c.G831C
English: c.567G>C or c.567G>T
Italian: c.567G>C o c.567G>T
English: c.T465A or c.T465G
Italian: c.T465A o c.T465G
English: c.G830A or c.G831A
Italian: c.G830A o c.G831A
English: c.T408A or c.T408G
Italian: c.T408A o c.T408G
English: c.960T>G or c.960T>A
Italian: c.960T>G o c.960T>A
English: c.453C>G or c.453C>A
Italian: c.453C>G o c.453C>A
English: c.G485A or c.G486A
Italian: c.G485A o c.G486A
English: c.G108C or c.G108T
Italian: c.G108C o c.G108T
English: c.G860A or c.G861A
Italian: c.G860A o c.G861A
English: c.870G>A or c.870G>C or c.870G>T
Italian: c.870G>A o c.870G>C o c.870G>T
English: c.831G>T or c.831G>C
Italian: c.831G>T o c.831G>C
English: c.G71A or c.G72A
Italian: c.G71A o c.G72A
English: c.G861C or c.G861T
Italian: c.G861C o c.G861T
English: c.860G>A or c.861G>A
Italian: c.860G>A o c.861G>A
English: c.103G>C or c.103G>A
Italian: c.103G>C o c.103G>A
English: c.734G>A or c.735G>A
Italian: c.734G>A o c.735G>A
English: c.C966A or c.C966G
Italian: c.C966A o c.C966G
English: c.859T>C or c.859T>A
Italian: c.859T>C o c.859T>A
English: c.G394A or c.G394C
Italian: c.G394A o c.G394C
English: c.T676C or c.T676A
Italian: c.T676C o c.T676A
English: c.439G>A or c.439G>C
Italian: c.439G>A o c.439G>C
English: c.G439A or c.G439C
Italian: c.G439A o c.G439C
English: c.888G>A or c.888G>T or c.888G>C
Italian: c.888G>A o c.888G>T o c.888G>C
English: Torticollis Pain in extremity
Italian: Dolore alle estremità
English: c.897C>G or c.897C>A
Italian: c.897C>G o c.897C>A
English: • Nose bleed (epistaxis)
Italian: • Sanguinamento dal naso (epistassi)
English: c.G837C or c.G837T
Italian: c.G837C o c.G837T
English: • Reduced sense of touch or sensation
Italian: • Riduzione della sensibilità sensoriale e tattile (ipoestesia)
English: UNKNOWN (del Exon3_7?)
Italian: NON NOTO (del Exon3_7?)
English: c.485G>A or c.486G>A
Italian: c.485G>A o c.486G>A
English: c.G486C or c.G486T
Italian: c.G486C o c.G486T
English: (torticollis)
Italian: Torcicollo
English: c.71G>A or c.72G>A
Italian: c.71G>A o c.72G>A
English: c.514T>A or c.515G>C
Italian: c.514T>A o c.515G>C
English: Muscle spasms Myalgia
Italian: Spasmi muscolari Mialgia
English: c.T834G or c.T834A
Italian: c.T834G o c.T834A
English: c.840A>T or c.840A>C
Italian: c.840A>T o c.840A>C
English: • Tiredness
Italian: • Cefalea
English: c.T70C or c.T70A
Italian: c.T70C o c.T70A
English: The mean annualised rate of change from baseline in eGFRCKD-EPI in patients treated for 30 months with Galafold was -1.72 mL/min/1.73 m
Italian: Il tasso medio annualizzato di variazione del eGFRCKD-EPI rispetto al basale in pazienti trattati per 30 mesi con Galafold era di -1,72 mL/min/1,73 m2 (95% CI: -2,653, -0,782; n=31).
English: c.154T>A or c.155G>C
Italian: c.154T>A o c.155G>C
English: c.A868C or c.A868T
Italian: c.A868C o c.A868T
English: c.C456A or c.C456G
Italian: c.C456A o c.C456G
English: c.465T>A or c.465T>G
Italian: c.465T>A o c.465T>G
English: c.708G>C or c.708G>T
Italian: c.708G>C o c.708G>T
English: c.T648A or c.T648G
Italian: c.T648A o c.T648G
English: c.588A>T or c.588A>C
Italian: c.588A>T o c.588A>C
English: c.T102G or c.T102A
Italian: c.T102G o c.T102A
English: c.T667A or c.G668C
Italian: c.T667A o c.G668C
English: c.966C>A or c.966C>G
Italian: c.966C>A o c.966C>G
English: c.394G>A or c.394G>C
Italian: c.394G>A o c.394G>C
English: c.408T>A or c.408T>G
Italian: c.408T>A o c.408T>G
English: c.676T>C or c.676T>A
Italian: c.676T>C o c.676T>A
English: c.102T>G or c.102T>A
Italian: c.102T>G o c.102T>A
English: c.T687A or c.T687G
Italian: c.T687A o c.T687G
English: c.837G>C or c.837G>T
Italian: c.837G>C o c.837G>T
English: c.G936T or c.G936C
Italian: c.G936T o c.G936C
English: c.T894G or c.T894A
Italian: c.T894G o c.T894A
English: c.861G>C or c.861G>T
Italian: c.861G>C o c.861G>T
English: c.70T>C or c.70T>A
Italian: c.70T>C o c.70T>A
English: c.C666A or c.C666G
Italian: c.C666A o c.C666G
English: Defaecation urgency Dyspepsia
Italian: Bisogno urgente di defecare Dispepsia
English: c.1018T>C or c.1018T>A c.T1018C or c.T1018A
Italian: c.1018T>C o c.1018T>A
English: c.G707A or c.G708A
Italian: c.G707A o c.G708A
English: c.T484C or c.T484A
Italian: c.T484C o c.T484A
English: c.288G>A or c.288G>T or c.288G>C
Italian: c.288G>A o c.288G>T o c.288G>C
English: c.T402G or c.T402A
Italian: c.T402G o c.T402A
English: c.747C>G or c.747C>A
Italian: c.747C>G o c.747C>A
English: c.G963C or c.G963T
Italian: c.G963C o c.G963T
English: c.784T>A or c.784T>C
Italian: c.784T>A o c.784T>C
English: c.G978C or c.G978T
Italian: c.G978C o c.G978T
English: c.486G>C or c.486G>T
Italian: c.486G>C o c.486G>T
English: c.720G>C or c.720G>T
Italian: c.720G>C o c.720G>T
English: c.456C>A or c.456C>G
Italian: c.456C>A o c.456C>G
English: c.G720C or c.G720T
Italian: c.G720C o c.G720T
English: c.978G>C or c.978G>T
Italian: c.978G>C o c.978G>T
English: c.G772C or c.G772A
Italian: c.G772C o c.G772A
English: c.729G>C or c.729G>T
Italian: c.729G>C o c.729G>T
English: c.369T>G or c.369T>A
Italian: c.369T>G o c.369T>A
English: c.G729C or c.G729T
Italian: c.G729C o c.G729T
English: c.G708C or c.G708T
Italian: c.G708C o c.G708T
English: c.677G>A or c.678G>A
Italian: c.677G>A o c.678G>A
English: c.G778C or c.G778A
Italian: c.G778C o c.G778A
English: c.T706C or c.T706A
Italian: c.T706C o c.T706A
English: UNKNOWN (del Exon2_3?)
Italian: NON NOTO (del Exon2_3?)
English: c.834T>G or c.834T>A
Italian: c.834T>G o c.834T>A
English: c.T784A or c.T784C
Italian: c.T784A o c.T784C
English: c.72G>C or c.72G>T
Italian: c.72G>C o c.72G>T
English: c.894T>G or c.894T>A
Italian: c.894T>G o c.894T>A
English: c.648T>A or c.648T>G
Italian: c.648T>A o c.648T>G
English: c.A886T or c.A886C
Italian: c.A886T o c.A886C
English: c.402T>G or c.402T>A
Italian: c.402T>G o c.402T>A
English: c.772G>C or c.772G>A
Italian: c.772G>C o c.772G>A
English: c.868A>C or c.868A>T
Italian: c.868A>C o c.868A>T
English: c.T702G or c.T702A
Italian: c.T702G o c.T702A
English: c.484T>C or c.484T>A
Italian: c.484T>C o c.484T>A
English: c.936G>T or c.936G>C
Italian: c.936G>T o c.936G>C
English: c.702T>G or c.702T>A
Italian: c.702T>G o c.702T>A
English: c.G785A or c.G786A
Italian: c.G785A o c.G786A
English: The change from baseline to Month 18 in LVMi (g/m 2) in patients with left ventricular hypertrophy (females with baseline LVMi > 95 g/m and males with baseline LVMi > 115 g/m2) was -8.4 (95% CI: -15.7, 2.6; n=13) for migalastat and 4.5 (95% CI: -10.7, 18.4; n=5) for ERT. After 30 months treatment with Galafold, the mean change from baseline in LVMi was -3.8 (95% CI: -8.9, 1.3; n=28) and the mean change from baseline in LVMi in patients with left ventricular hypertrophy at baseline was -10.0 (95% CI: -16.6, -3.3; n=10).
Italian: La variazione dal valore basale al mese 18 nell'indice LVMi (g/m2) in pazienti con ipertrofia ventricolare sinistra (femmine con LVMi basale > 95 g/m2 e maschi con LVMi basale > 115 g/m2) era -8,4 (95% CI: -15,7, 2,6; n=13) per migalastat e 4,5 (95% CI: -10,7, 18,4; n=5) per ERT.
English: c.666C>A or c.666C>G
Italian: c.666C>A o c.666C>G
English: c.778G>C or c.778G>A
Italian: c.778G>C o c.778G>A
English: c.785G>A or c.786G>A
Italian: c.785G>A o c.786G>A
English: c.678G>T or c.678G>C
Italian: c.678G>T o c.678G>C
English: c.706T>C or c.706T>A
Italian: c.706T>C o c.706T>A
English: c.G678T or c.G678C
Italian: c.G678T o c.G678C
English: c.G677A or c.G678A
Italian: c.G677A o c.G678A
English: c.963G>C or c.963G>T
Italian: c.963G>C o c.963G>T
English: c.687T>A or c.687T>G
Italian: c.687T>A o c.687T>G
English: c.667T>A or c.668G>C
Italian: c.667T>A o c.668G>C
English: c.G786C or c.G786T
Italian: c.G786C o c.G786T
English: c.1095T>A or c.1095T>G c.T1095A or c.T1095G
Italian: c.1095T>A o c.1095T>G
English: c.G72C or c.G72T
Italian: c.G72C o c.G72T
English: c.886A>T or c.886A>C
Italian: c.886A>T o c.886A>C
English: Q212X c.639G>A (putative splicing site) c.G639A (putative splicing site) UNKNOWN c.[644A>G; 811G>A]
Italian: Cambio di sequenza proteica c.639G>A (sito putativo di splicing)
English: c.1147T>C or c.1149C>G or c.1149C>A
Italian: Cambio di sequenza proteica c.1147T>C o c.1149C>G o c.1149C>A
English: Protein sequence change c.126G>A or c.126G>C or c.126G>T
Italian: c.126G>A o c.126G>C o c.126G>T
English: c.786G>C or c.786G>T
Italian: c.786G>C o c.786G>T
English: M267R c.801G>A (putative splicing site) c.G801A (putative splicing site) UNKNOWN (M267I) c.803T>C
Italian: c.801G>A (sito putativo di splicing)
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.
Italian: Se sono trascorse più di 12 ore, dovrà riprendere l'assunzione di Galafold nel giorno e nell'ora di assunzione successivi, in base al programma di assunzione a giorni alterni.
English: Protein Sequence change p.T412Sfs*37
Italian: p.T412Sfs*37
English: L177X c.547G>A (putative splicing site) c.G547A (putative splicing site) UNKNOWN (G183S) c.548G>T
Italian: c.547G>A (sito putativo di splicing)
English: c.T798A or c.T798G
Italian: c.T798A o c.T798G
English: - If you get any side effects, talk to your doctor, pharmacist, or nurse.
Italian: - Se ha qualsiasi dubbio, si rivolga al medico, al farmacista o all'infermiere.
English: Diarrhoea Nausea
Italian: Affaticamento Dolore
English: c.798T>A or c.798T>G
Italian: c.798T>A o c.798T>G
English: c.T789A or c.T789G
Italian: c.T789A o c.T789G
English: c.789T>A or c.789T>G
Italian: c.789T>A o c.789T>G
English: There was no detectable plasma protein binding following administration of [
Italian: Non è stato riscontrato alcun legame evidente alle proteine plasmatiche dopo la somministrazione di [14C]-migalastat cloridrato nell'intervallo di concentrazione compreso tra 1 e 100 M.