by the lack of acid alpha - glucosidase activity ( GAA(passive) is caused byInfantile - onset Pompe disease
complete or partial deficiency of the(passive) is caused byHuman Pompe disease
the most significantinfluencingPompe Disease Drug
bear mutations homologous to thosecausehuman Pompe disease
indirect support for a model in whichcontributesto Pompe disease pathogenesis
with biologics program , ATB200 / AT2221 , which is making great steps in treating the genetic disorder(passive) is being ledPompe disease treatment
mutations in the gene encoding the enzyme alpha - glucosidase , or GAA , which results in a deficiency of GAA protein and leads to the accumulation of glycogen in an intracellular organelle known as the lysosome(passive) are caused byBoth forms of Pompe disease
the deficiency of the lysosomal enzyme acid(passive) is caused byPompe disease ( PD
a deficiency of lysosomal acid(passive) is caused byPompe disease ( PD
the deficiency of lysosomal acid(passive) is caused byPompe disease ... ( GAA
by cavitation(passive) caused bypump condition
a defective gene that results in a deficiency of an enzyme , acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
mutations in the gene encoding the lysosomal enzyme alpha - glucosidase , or GAA , which results in a deficiency of GAA protein and leads to the accumulation of glycogen(passive) is caused byPompe disease
mutations in the gene encoding the lysosomal enzyme alpha - glucosidase , or GAA , which results in a deficiency of GAA protein and leads to the intracellular accumulation of glycogen(passive) is caused byPompe disease
mutations in the gene encoding the lysosomal enzyme alpha - glucosidase , or GAA , which results in a deficiency of GAA protein and leads to an intracellular accumulation of glycogen(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme , acid alpha - glucosidase(passive) is caused byPompe disease
a mutation in the GAA gene that leads to a deficiency in an enzyme called acid alpha - glucosidase(passive) is caused byPompe disease
glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase ( GAA(passive) is caused byPompe disease
a deficiency in the enzyme acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
mutations in acid alpha glucosidase ( GAA ) that causes accumulation of(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme(passive) is caused byPompe disease
by a defective gene that results in a deficiency of an enzyme(passive) is caused byPompe disease
the absence or marked deficiency of the lysosomal enzyme acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
pathogenic variations in the acid alpha - glucosidase ( GAA ) gene(passive) is caused byPompe disease
a deficiency of the lysosomal acid alpha glucosidase ( GAA(passive) is caused byPompe disease
A deficiency of the enzyme acid alpha - glucosidaseleadsto Pompe disease
mutations in the acid alpha - glucosidase ( GAA ) gene that leads to either the complete absence or a less effective version of the GAA enzyme(passive) is caused byPompe disease
a deficiency of the enzyme alpha - glucosidase ( GAA ) , an enzyme that at normal levels will breakdown glycogen in the body(passive) is caused byPompe disease
by the deficiency of acid alpha - glucosidase ( GAA(passive) caused byPompe disease
mutations of the GAA gene(passive) is caused byPompe disease
the deficiency of acid - alpha - glucosidase ( GAA ) in muscle(passive) is caused byPompe disease
mutations in the GAA gene , which contains the information necessary to make the enzyme acid alpha - glucosidase(passive) is caused byPompe disease
a deficiency of the enzyme alpha - glucosidase ( GAA ) , an enzyme that at normal levels will break down glycogen in the body(passive) is caused byPompe disease
an absence or deficiency of the lysosomal enzyme acid(passive) is caused byPompe disease
a deficiency of the lysosomal enzyme , GAA(passive) is caused byPompe disease
A mutation in the GAA gene causes glycogen breakdownleadingto Pompe disease
a deficiency of the lysosomal acid alpha glucosidase ( GAA ) , responsible for breaking down glycogen(passive) is caused byPompe disease
absence of the lysosomal enzyme acid alpha - glucosidase(passive) is caused byPompe disease
mutation of the GAA gene(passive) is caused byPompe disease
muscle weakness and trouble breathingcausesmuscle weakness and trouble breathing
in deathcan resultin death
to cardiac and/or respiratory failureleadsto cardiac and/or respiratory failure
protein losscan causeprotein loss
usuallyresultsusually
Renal hematuria(passive) is caused byRenal hematuria
by an enzyme deficiency that leads to accumulation of glycogen in cellscausedby an enzyme deficiency that leads to accumulation of glycogen in cells
progressive , often life - threatening musculoskeletal , respiratory , and cardiac symptomscausesprogressive , often life - threatening musculoskeletal , respiratory , and cardiac symptoms
progressive , debilitating , and often life - threatening musculoskeletal , respiratory , and cardiac symptomscausesprogressive , debilitating , and often life - threatening musculoskeletal , respiratory , and cardiac symptoms
muscle weakness even in early diagnosed patientscausesmuscle weakness even in early diagnosed patients
severe disabilitycausessevere disability
to deathleadsto death
lysosomal glycogen accumulation in skeletal muscle and heartcauseslysosomal glycogen accumulation in skeletal muscle and heart
oftenresultsoften
to heart failurecan leadto heart failure
progressive muscle weakness and a great deal of paincausesprogressive muscle weakness and a great deal of pain
muscle weakness and trouble breathingcausesmuscle weakness and trouble breathing
itchingcan causeitching
the accumulation of glycogen in muscle tissuecausesthe accumulation of glycogen in muscle tissue
muscle weakness , impaired gait , and muscle painmainly causesmuscle weakness , impaired gait , and muscle pain
from a deficiency or absence of the lysosomal enzyme acid alpha glucosidase ( GAAresultsfrom a deficiency or absence of the lysosomal enzyme acid alpha glucosidase ( GAA
muscle wasting in my arms and legshas causedmuscle wasting in my arms and legs
from a genetic mutation in the GAA generesultsfrom a genetic mutation in the GAA gene
the diaphragmatic weakening(passive) caused bythe diaphragmatic weakening
the accumulation of glycogen , used to store energy , in muscle tissuecausesthe accumulation of glycogen , used to store energy , in muscle tissue
in human cellscausedin human cells
alsocan ... resultalso
from mutations in the gene encoding the glycogen - degrading lysosomal enzyme acid alpharesultsfrom mutations in the gene encoding the glycogen - degrading lysosomal enzyme acid alpha
What Is Used In Male Enhancement PillscausingWhat Is Used In Male Enhancement Pills
in pressurized sacrificed perfusionresultingin pressurized sacrificed perfusion
in a Golgi - based glycosylation deficit in human induced pluripotent stem cell - derived cardiomyocytesresultsin a Golgi - based glycosylation deficit in human induced pluripotent stem cell - derived cardiomyocytes
a record global category womenseta record global category women
damagecauseddamage
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