Category:Glycogen storage disease type II

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malattia di Pompe 
malattia neuromuscolare rara, caratterizzata da un difetto del metabolismo del glicogeno il quale si accumula in modo anomalo nei tessuti,
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Istanza dimalattia,
malattia rara
Sottoclasse diglicogenosi,
cardiomiopatia ipertrofica,
muscular glycogenosis,
lysosomal disease with restrictive cardiomyopathy,
lysosomal disease with hypertrophic cardiomyopathy,
glycogen storage disease with hypertrophic cardiomyopathy,
lysosomal glycogen storage disease
Prende il nome da
  • Johannes C. Pompe
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Enfermedad de Pompe (es); Maladie de Pompe (fr); Penyakit Pompe (ms); Morbus Pompe (de); doença de Pompe (pt); گلیکوژنوز نوع دو (fa); 龐貝氏症 (zh); Pompeho choroba (cs); 龐貝氏症 (zh-hk); ポンペ病 (ja); داء اختزان الغلايكوجين النمط الثاني (ar); malattia di Pompe (it); glykogeninlagringssjukdom typ II (sv); Choroba Pompego (pl); Захворювання Помпе (uk); Ziekte van Pompe (nl); 龐貝氏症 (zh-hant); Болезнь Помпе (ru); malaltia de Pompe (ca); Pompen tauti (fi); glycogen storage disease II (en); malsano de Pompe (eo); 庞贝氏症 (zh-hans); מחלת אגירת גליקוגן מסוג 2 (he) malattia neuromuscolare rara, caratterizzata da un difetto del metabolismo del glicogeno il quale si accumula in modo anomalo nei tessuti, (it); Krankheit (de); krooninen neuromuskulaarinen sairaus (fi); autosomal recessive metabolic disorder (en); maladie génétique progressive et souvent fatale en rapport avec une anomalie de fonctionnement de l'alpha-1,4-glucosidase acide, une enzyme lysosomiale qui hydrolyse le glycogène en glucose (fr) Glicogenosi di tipo 2, Morbo di Pompe (it); 糖原病II型, 酸性マルターゼ欠損症 (ja); glycogénose type 2 (fr); Glykogen lagringssjukdom typ II (sv); GSD II, Glikogenoza typu II (pl); מחלת פומפה (he); Morbus Pompe (nl); Penyakit Penyimpanan Glikogen (ms); Saure Maltasemangel, Pompesche Krankheit, Pompe-Krankheit (de); Pompe disease, acid maltase deficiency, Generalized glycogenosis (disorder), Glycogen storage disease, type II (disorder), Glycogenosis, type 2, Lysosomal alpha-1,4-glucosidase deficiency (disorder), Pompe's disease, deficiency of glucoamylase, deficiency of maltase, glycogen storage disease type II, Lysosomal alpha-1,4-glucosidase deficiency, Glycogen storage disease, type II, Generalized glycogenosis, Glycogen storage disease type 2, Alpha-1,4-glucosidase acid deficiency, GLYCOGEN STORAGE DISEASE II, Gsd 2, Glycogenosis type 2, Gaa Deficiency, Cardiomegalia Glycogenica Diffusa, GSD2, GSD type II, GSD due to acid maltase deficiency, GSD type 2, Glycogenosis type II, Glycogenosis due to acid maltase deficiency, Alpha-1,4-Glucosidase Deficiency, GLYCOGEN STORAGE DISEASE II; GSD2, Glycogen storage disease due to acid maltase deficiency, Glycogenosis, Generalized, Cardiac Form (en); Glucogenosis tipo II (es); Pompeho nemoc, Deficit kyselé maltázy, Pompeova choroba, Glykogenóza typu II, Morbus Pompe, Pompeova nemoc (cs); POMPE (zh)

File nella categoria "Glycogen storage disease type II"

Questa categoria contiene 7 file, indicati di seguito, su un totale di 7.