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the enzyme deficiencycausesHurler syndrome
mutations in the IDUA gene 4p Patients(passive) is caused byHurler syndrome
a deficiency of the enzyme alpha - L - iduronidase(passive) is caused byHurler Syndrome
a deficiency of a specific enzyme responsible for degrading complex sugars called glycosaminoglycans or GAGs(passive) is caused byHurler 's Syndrome
mutations in the IDUA gene 4p Sindrome de hurler the link below via email or IM(passive) is caused byHurler syndrome
autosomal recessive mutations on the IDUA gene on chromosome 4(passive) is caused byHurler syndrome
As of 2001 , 52 different mutations in the IDUA gene have been shownto causeHurler syndrome
As of 2001[update ] , 52 different mutations in the IDUA gene have been shownto causeHurler syndrome
deficiency of the enzyme alpha - L - iduronase(passive) is caused byHurler ’s syndrome
the hereditary deficiency of an enzyme , called alpha - L - iduronidase(passive) is caused byHurler syndrome
A number of mutations in the IDUA gene ( which codes for the 653 amino acid protein and is found on chromosome 4p16.3 ) have been foundto causeHurler syndrome
mutations in the IDUA gene ( 4p16.3 ) leading to partial deficiency in the alpha - L - iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate(passive) is caused byHurler - Scheie syndrome
due to a malfunctioning enzyme called lysosomal alpha - L - iduronidase which facilitates breakdown of the sugar molecule called glycosaminoglycans(passive) is causedHurler syndrome
deficiency of α - l - iduronidase leading to a multisystem disorder with central nervous system and somatic manifestations and premature death.1,2(passive) is caused byHurler syndrome
a variation in the IDUA gene , which contains the instructions for the production of a specific enzyme known as alpha - L - iduronidase(passive) is caused byHurler syndrome
mutations in the IDUAgene ( 4p16.3 ) leading to a complete deficiency in the alpha - L - iduronidase enzyme and lysosomal accumulation of dermatan sulfate and heparan sulfate(passive) is caused byHurler syndrome
mutations on the gene that is responsible for the production of the alpha - L - iduronidase enzyme(passive) is caused byHurler ’s syndrome
deficient alpha - L - iduronidase ( -L - iduronidase ) activity , which results in an accumulation of the glycosaminoglycan ( GAG ) heparan sulfate and dermatan sulfate in body tissues(passive) is caused byHurler syndrome
due to a defective enzyme(passive) is causedHurler ’s syndrome
a lack of the enzyme iduronidase(passive) caused byHurler syndrome
the body 's inability to produce specific enzymes(passive) is caused byHurler ’s Syndrome
a recessive gene(passive) is caused byHurler syndrome
a deficiency of a lysosomal enzyme , IUDA , which aids in the breakdown of dermatan sulfate and heparin sulfate ( GAG(passive) is caused byHurler syndrome
a defect in genetically controlled pathways of lysosomal degradation(passive) is caused byHurler syndrome
a mutation in the iduronidase ( IDUA ) enzyme , which is vital to the breaking down of complex sugars(passive) is primarily caused byHurler syndrome
pathogenic variants in the IDUA gene(passive) is caused byHurler syndrome
the absence of α - L - iduronidase , which catalyzes the cleavage of iduronic acid residues from polysaccharide chains(passive) is caused byHurler syndrome
central levels of GAGs before and after BMT in a patient with Hurler syndrome ... a progressive diseaseleadsto Hurler syndrome
a gene mutation in the idua gene(passive) is caused byHurler syndrome
mutation in the gene ( idua(passive) is caused byHurler syndrome
roughly two - thirds of the mutationscauseHurler syndrome
a reduced or absent activity of the alpha - L - iduronidase enzyme(passive) is caused byHurler / Scheie syndrome
a mutated genecausesHurler syndrome
missing enzyme - alpha - L - iduronidase Alpha - L - iduronidase breaks down ( mucopolysaccharides(passive) are caused byHurler / Scheie syndrome
c.1598C > G ) in exon 11 of IDUAcausingHurler syndrome
changes in the IDUA gene(passive) is caused byHurler - Scheie syndrome
P533R. Table of sample mutationsleadto Hurler Syndrome
In 2001 , some 52 different mutations of the IDUA were knownto causeHurler syndrome
RareshareTeam(passive) Created byHurler Syndrome
Double NumbersDiscoveredHurler Syndrome
in progressive and irreversible neurodegeneration , which leads to death in early childhood [ 2also resultsin progressive and irreversible neurodegeneration , which leads to death in early childhood [ 2
mental damage(passive) caused bymental damage
the brain damage(passive) caused bythe brain damage
the continuing damage(passive) caused bythe continuing damage
organ and soft tissue damage as well as bone and joint abnormalitiescausesorgan and soft tissue damage as well as bone and joint abnormalities
severe and progressive Intellectual disabilities starting from early childhoodcausessevere and progressive Intellectual disabilities starting from early childhood
mental and physical disabilitycausesmental and physical disability
progressive deterioration of the central nervous system and death in childhoodcausesprogressive deterioration of the central nervous system and death in childhood
the mental retardation(passive) caused bythe mental retardation
from a defect in alpha - L - iduronidaseresultsfrom a defect in alpha - L - iduronidase
usuallyleadsusually
due to a malfunctioning enzyme called lysosomal alpha - L - iduronidase which facilitates breakdown of the sugar molecule called glycosaminoglycansis causeddue to a malfunctioning enzyme called lysosomal alpha - L - iduronidase which facilitates breakdown of the sugar molecule called glycosaminoglycans
from an enzyme deficiency caused by a mutation in the IDUA gene , which is situated on chromosome 4resultsfrom an enzyme deficiency caused by a mutation in the IDUA gene , which is situated on chromosome 4
skeletal abnormalities and cognitive impairmentscausesskeletal abnormalities and cognitive impairments
facial deformities , stunted development and intellectual disabilitycausesfacial deformities , stunted development and intellectual disability
to an accumulation of whatleadsto an accumulation of what
stiff joints , clouding of the cornea , deafness , intellectual disability , dwarfism , and heart valve diseasecan causestiff joints , clouding of the cornea , deafness , intellectual disability , dwarfism , and heart valve disease
progressive deterioration of the central nervous system with ensuing deathcausesprogressive deterioration of the central nervous system with ensuing death
dysostosis multiplex , typical skeletal abnormalities such as short stature , and short and wide claviclesalso causesdysostosis multiplex , typical skeletal abnormalities such as short stature , and short and wide clavicles
in either stabilization or improvement of neurocognitive functionresultedin either stabilization or improvement of neurocognitive function
mental development problems(passive) caused bymental development problems