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glycogen accumulation as a result of deficiency of the lysosomal enzyme acid alpha glucosidase ( GAA(passive) is caused by6:120 Pompe disease
more than 200 mutations of the GAA genecan causePompe disease
mutations in the GAA gene located on chromosome 17(passive) is caused byPompe disease
the absence or marked deficiency of the lysosomal enzyme acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme , acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
mutations in the GAA gene , which impair the activity or production of the enzyme(passive) is caused byPompe disease
mutations in the GAA gene , which impair production or activity of the enzyme(passive) is caused byPompe disease
mutations in the GAA gene , which encodes lysosomal acid α - glucosidase(passive) is caused byPompe disease
mutations in the GAA gene , which provides instructions to build the GAA enzyme(passive) caused byPompe disease
a genetic deficiency of the lysosomal enzyme acid alpha - glucosidase ( GAA ) , which results in the accumulation of glycogen in the muscles(passive) is caused byPompe disease
the deficiency of acid α - glucosidase ( GAA(passive) caused byPompe disease
a very common genetic mutationcausesPompe disease
a deficiency of acid alpha - glucosidase ( GAA ; acid maltase ) and manifests as muscle weakness , hypertrophic cardiomyopathy , and respiratory failure(passive) is caused byPompe disease
the inherited deficiency of lysosomal acid alpha - glucosidase ( GAA(passive) caused byPompe disease
hundreds of different mutations in the GAA gene , which encodes for an enzyme called acid alpha - glucosidase(passive) can be caused byPompe disease
many different mutations in the GAA gene , which encodes for an enzyme called acid alpha - glucosidase(passive) can be 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
mutations in the GAA gene , which provides instructions to make an enzyme known as acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
a gene mutation(passive) is caused byPompe disease
a genetic mutation that results in a deficiency of the enzyme acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
different mutations in the GAA gene , which lead to the reduced function of an enzyme called acid alpha - glucosidase ( also known as acid maltase(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme , acid alpha - glucosidase ( pronounced “ AL - fa glue - CO - sih - days ” and often abbreviated GAA(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme known as acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
A mutation in the GAA gene causes glycogen breakdownleadingto Pompe disease
a Mutation of the GAA Gene Home » Cause of Pompe Disease(passive) Is Caused byPompe Disease
autosomal recessive mutations in the acid alpha - glucosidase ( GAA ) gene , which encodes GAA(passive) is caused byhttp://dx.doi.org/10.1093/hmg/ddr424 Pompe disease
inactivation of the acid alpha - glucosidase enzyme and accumulation of glycogen(passive) is caused byPompe Pompe 's disease
an inherited deficiency of the lysosomal enzyme acid α - glucosidase ( GAA ) leading to the accumulation of glycogen in muscles(passive) is caused byPompe disease
a novel splice - site mutation in the GAA genecausingPompe disease
that the mutation occurs into causePompe 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 Pompe disease
a deficiency or malfunction of specific enzymes found in cell lysosomes(passive) are caused byPompe Disease Pompe disease
virtually complete deficiency of the lysosomal enzyme acid alpha glucosidase ( GAA ) and abnormal storage of glycogen ... leading to hypertrophic cardiomyopathy ( HCM ) , a myopathy with profound axial muscle weakness , and early death usually within the first year of life before enzyme replacement therapy ( ERT ) became available(passive) is caused byPompe disease ( IOPD
more than 300 genetic mutationscan causepompe disease
seecausesPompe disease ’ section
a deficiency in lysosomal acid α - glucosidase ( GAA(passive) caused byPompe disease
mutations in a gene that makes an enzyme called acid alpha - glucosidase ( GAA(passive) is caused byPompe disease
mutations in the acid α - glucosidase ( GAA ) gene(passive) is caused byPompe disease
a deficiency or complete lack of an enzyme called acid alpha - glucosidase(passive) is caused byPompe disease
a defective gene that results in a deficiency of an enzyme called acid alpha - glucosidase ( GAA ) which causes progressive muscle weakness in people of all ages(passive) is caused byPompe disease
muscle weakness and trouble breathingcausesmuscle weakness and trouble breathing
significant muscle weaknesscausessignificant muscle weakness
progressive muscle weakness , which can lead to respiratory failure in patientscausesprogressive muscle weakness , which can lead to respiratory failure in patients
progressive muscle weakness and a great deal of paincausesprogressive muscle weakness and a great deal of pain
muscle weakness and breathing problemscausesmuscle weakness and breathing problems
heart and skeletal muscle weaknesscausesheart and skeletal muscle weakness
muscle weakness and heart defectscan causemuscle weakness and heart defects
progressive muscle weakness affecting breathing , mobility and heart functioncausesprogressive muscle weakness affecting breathing , mobility and heart function
death in infancy from cardiorespiratory failurecausesdeath in infancy from cardiorespiratory failure
progressive muscle weakness , developmental and motor skill delays , difficulty breathing and many other complications , even death in infancywill causeprogressive muscle weakness , developmental and motor skill delays , difficulty breathing and many other complications , even death in infancy
muscle weakness , impaired gait , and muscle painmainly causesmuscle weakness , impaired gait , and muscle pain
muscle weakness even in early diagnosed patientscausesmuscle weakness even in early diagnosed patients
progressive , debilitating , and often life - threatening muscle weakness , often affecting the heart , skeletal muscles , respiratory , liver and nervous systems in people of all agescausesprogressive , debilitating , and often life - threatening muscle weakness , often affecting the heart , skeletal muscles , respiratory , liver and nervous systems in people of all ages
muscle weakness primarily affecting breathing , mobility , and heart functioncausesmuscle weakness primarily affecting breathing , mobility , and heart function
muscle weakness and can be fatal – especially in infants – as the body becomes too weak to move or breathecausesmuscle weakness and can be fatal – especially in infants – as the body becomes too weak to move or breathe
heart enlargement and heart failure in infantsmay causeheart enlargement and heart failure in infants
progressive , debilitating , and often life - threatening musculoskeletal , respiratory , and cardiac symptoms favorable outcomes with early intravenous enzyme - replacement therapy and alglucosidase alfa have been reported , but early clinical diagnosis before thecausesprogressive , debilitating , and often life - threatening musculoskeletal , respiratory , and cardiac symptoms favorable outcomes with early intravenous enzyme - replacement therapy and alglucosidase alfa have been reported , but early clinical diagnosis before the
muscular atrophy and in its extreme form , respiratory failure and deathcausesmuscular atrophy and in its extreme form , respiratory failure and death
to hypotonia ... left ventricular enlargement , and heart failureleadsto hypotonia ... left ventricular enlargement , and heart failure
in implementation of publication and medical Communication plansresultingin implementation of publication and medical Communication plans
in a Golgi - based glycosylation deficit in human induced pluripotent stem cell - derived cardiomyocytes Raval KK , Tao R , White BE , De Lange WJ , Koonce CH , Yu J , Kishnani PS , Thomson JA , Mosher DF , Ralphe JC , Kamp TJresultsin a Golgi - based glycosylation deficit in human induced pluripotent stem cell - derived cardiomyocytes Raval KK , Tao R , White BE , De Lange WJ , Koonce CH , Yu J , Kishnani PS , Thomson JA , Mosher DF , Ralphe JC , Kamp TJ
premature death soon after birthcausespremature death soon after birth
muscle weakness , difficulty breathing , frequent falls and hard to get upstairs because your body is n’t producing Acid Alpha Glucosidase enzymes that ’s supposed to absorb glycogenscausesmuscle weakness , difficulty breathing , frequent falls and hard to get upstairs because your body is n’t producing Acid Alpha Glucosidase enzymes that ’s supposed to absorb glycogens
from mutations in the GAA gene which result in the inability of the body to break down the complex sugar called glycogenresultsfrom mutations in the GAA gene which result in the inability of the body to break down the complex sugar called glycogen
to cardiac and/or respiratory failure before patients reach one year of ageleadsto cardiac and/or respiratory failure before patients reach one year of age
organ damage including the brain , and possible deathresultsorgan damage including the brain , and possible death
symptoms diagnosis treatmentcausessymptoms diagnosis treatment
severe disabilitycausessevere disability
progressive weakening of the muscles , heart and respiratory system leading to profound disability , ventilator dependence and cardiac failurecausesprogressive weakening of the muscles , heart and respiratory system leading to profound disability , ventilator dependence and cardiac failure
weakness of the muscles that power the lungscausesweakness of the muscles that power the lungs
mancan causeman
acute pancreatitiscan causeacute pancreatitis
from the deficiency of the lysosomal enzymeresultsfrom the deficiency of the lysosomal enzyme
many different symptoms that affect different parts of the bodycan causemany different symptoms that affect different parts of the body
experiences such as dyspnea and frequent lung infectionswould causeexperiences such as dyspnea and frequent lung infections
severe lack of muscle strength and tone and an enlarged heart , which may lead to breathing difficulties and delayed developmentto causesevere lack of muscle strength and tone and an enlarged heart , which may lead to breathing difficulties and delayed development
generallyresultsgenerally
Breathing Tests Breathing troubles(passive) caused byBreathing Tests Breathing troubles
from a genetic mutation in the GAA generesultsfrom a genetic mutation in the GAA gene
muscle wasting in my arms and legshas causedmuscle wasting in my arms and legs