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a genetic problem(passive) is caused byTOP Lysosomal storage disease
the deficiency of a lysosomal enzyme or an essential cofactor leading to deposition of the substrate within the lysosomes ... resulting in cellular and tissue dysfunction(passive) is caused byLysosomal Storage Diseases ( LSDs
by a deficiency of alpha - galactosidase A(passive) caused byFabry Lysosomal storage disease
defects in release of alpha or dense ( delta(passive) is caused byStorage pool disease
defects in release of alpha or dense ( delta ) platelet granules , or both ( alpha - delta storage pool disease(passive) is caused byStorage pool disease
it means that there is a malfunction in your systemcausesstorage pool issue
by a deficiency of the enzyme glucocerebrosidase(passive) caused bylysosomal storage disease
by a deficiency of the enzyme arylsulfatase A(passive) caused bylysosomal storage disease
by a deficiency of alpha - galactosidase A(passive) caused byLysosomal storage disease
by deficient lysosomal enzyme(passive) is causedthe lysosomal storage disease
defects in release of alpha or dense ( delta ) platelet granules(passive) is caused byStorage pool disease
the deficiency of a single hydrolase ( lysosomal enzymes(passive) is caused byLysosomal storage disease
by a defect in the GAA gene(passive) caused bylysosomal storage disease
by a deficiency of the enzyme beta - mannosidase(passive) caused bylysosomal storage disease
by the accumulation of the amino acid cystine that is produced in the lysosomes of cells as the result of protein degradation(passive) caused bylysosomal storage disease
by a deficiency of alpha - L - iduronidase ( IDURONIDASE(passive) caused bylysosomal storage disease
by a deficiency of the enzyme arylsulfatase A ( ARSA(passive) caused bylysosomal storage disease
by mutations in the LIPA gene , which encodes for lysosomal acid lipase ( LAL(passive) caused bylysosomal storage disease
by the body 's inability to produce specific lysosomal enzymes(passive) are causedlysosomal storage disease
by deficiency of the enzyme galactocerebrosidase ( GALC(passive) caused bylysosomal storage disease
a deficiency of alpha - galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems(passive) caused byLysosomal storage disease
by a genetic problem(passive) is caused byLysosomal storage disease
a genetic problem(passive) is caused byLysosomal storage disease
a deficiency of enzymes that are require to perform metabolic functions(passive) is caused byLysosomal storage disease
whose genetic inactivationcauseslysosomal storage disease
a genetic defect that prevents the formation of certain enzymes needed to perform metabolic functions in the body(passive) is caused byLysosomal storage disease
by defective alpha - L - fucosidase with accumulation of fucose in the tissues(passive) caused byLysosomal storage disease
mutationscausingfibrinogen storage disease
by a deficiency in the lysosomal enzyme(passive) caused bysphingolipid storage disease
Fibrinogen Aguadilla ... knownto causefibrinogen storage disease
by deficiency of an enzyme(passive) caused bylysosomal storage diseases
defects in the genes coding for lysosomal enzymes(passive) are caused byLysosomal storage diseases
by specific enzyme deficiencies(passive) caused bylysosomal storage diseases
by the deficiency of one of the enzymes essential for the catabolism of Glycosaminoglycans(passive) are causedlysosomal storage diseases
by a deficiency of enzymes that degrade(passive) caused bylysosomal storage diseases
by genetic deficiency of galactocerebrosidase ( GALC ) activity [ 3(passive) caused bystorage disease
mutations in genes encoding lysosomal enzymes(passive) are caused byLysosomal storage diseases
lysosomal enzyme deficits that lead to glycosaminoglycan accumulation(passive) caused bylysosomal storage diseases
an inherited deficiency of an enzyme involved in the breaking down of glycosaminoglycans ( mucopolysaccharides(passive) caused bylysosomal storage diseases
by deficiency of the lysosomal enzymes needed to degrade glycosaminoglycans ( GAGs(passive) caused bylysosomal storage diseases
by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans ( mucopolysaccharidescausedby an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans ( mucopolysaccharides
bleeding due to platelet aggregation andcausesbleeding due to platelet aggregation and
from deficiency of the enzyme acidresultedfrom deficiency of the enzyme acid
to abnormal bleeding and thrombosismay leadto abnormal bleeding and thrombosis
through a deficiency incausedthrough a deficiency in
in accumulation of lysosomes throughout the bodyresultingin accumulation of lysosomes throughout the body
$ 10 M(passive) led by$ 10 M
due to mutation or lack of functional genecauseddue to mutation or lack of functional gene
in neurological signscan resultin neurological signs
primarilycausedprimarily
to neurodegeneration and neurological deficitsleadsto neurodegeneration and neurological deficits
from a deficiency of the enzyme alpha - D - mannosidase in various organresultingfrom a deficiency of the enzyme alpha - D - mannosidase in various organ
$ 10 M Seed(passive) led by$ 10 M Seed
from a deficiency of the enzyme alpha - D - mannosidase in various organs , including brain , kidneyresultingfrom a deficiency of the enzyme alpha - D - mannosidase in various organs , including brain , kidney
from a deficiency of the enzyme alpha - D - mannosidase in various organs , including brain , kidney andresultingfrom a deficiency of the enzyme alpha - D - mannosidase in various organs , including brain , kidney and
varied symptoms involving different systems in the bodycausesvaried symptoms involving different systems in the body
in premature deathresultingin premature death
in a proliferation of sulfatideresultingin a proliferation of sulfatide
severe neurodegenerationcausesevere neurodegeneration
from a deficiency of the enzyme alpha galactosidase ( GLA ) , which causes a glycolipid known as globotriaosylceramide to accumulate in blood vessels and other tissuesresultsfrom a deficiency of the enzyme alpha galactosidase ( GLA ) , which causes a glycolipid known as globotriaosylceramide to accumulate in blood vessels and other tissues
in about onecausein about one
in abnormal accumulation of glycosaminoglycans throughout the bodyresultin abnormal accumulation of glycosaminoglycans throughout the body
from mutations in various genesresultfrom mutations in various genes
from hexosaminidase - A deficiencyresultingfrom hexosaminidase - A deficiency
when the lysosome resultwhen the lysosome
in an accumulation of mucopolysaccharides within the lysosomeresultin an accumulation of mucopolysaccharides within the lysosome
from a lack of conversion ( most likely in the endoplasmic reticulum ) of cysteine into formylglycineresultingfrom a lack of conversion ( most likely in the endoplasmic reticulum ) of cysteine into formylglycine
when sialic acid , a kind of charged sugar , is unable to be transported out of the lysosomal membrane and insteadcausedwhen sialic acid , a kind of charged sugar , is unable to be transported out of the lysosomal membrane and instead
when a specific organelle Organelleresultwhen a specific organelle Organelle
such as Niemann - Pick diseasecan leadsuch as Niemann - Pick disease
from the deficiency of specific enzymatic activities and the accumulation of partially degraded acidresultfrom the deficiency of specific enzymatic activities and the accumulation of partially degraded acid
from defects in degradation of glycosaminoglycans , which are excreted in urine and accumulate in tissueresultingfrom defects in degradation of glycosaminoglycans , which are excreted in urine and accumulate in tissue
when a specific organelle in the body 's cellsresultwhen a specific organelle in the body 's cells
when a specific organelle in the body 's cells resultwhen a specific organelle in the body 's cells
in the accumulation of abnormal metabolic products in cells Diseasesresultin the accumulation of abnormal metabolic products in cells Diseases
storage polar disordercausedstorage polar disorder
storage polar disorder Platelet dysfunctioncausedstorage polar disorder Platelet dysfunction
storage polar disorder Total of motor symptom managementcausedstorage polar disorder Total of motor symptom management
storage polar disorder Consequentlycausedstorage polar disorder Consequently
mental retardation ( such as Batten disease ) as well as many human neurodegeneratve diseases such as Multiple Sclerosis and Parkinsons diseasecausemental retardation ( such as Batten disease ) as well as many human neurodegeneratve diseases such as Multiple Sclerosis and Parkinsons disease