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a deficiency of the lysosomal enzyme iduronate-2-sulfatase ( I2S(passive) is caused byHunter Syndrome
abnormal genes inherited in X chromosomes from the mother(passive) is caused byHunter Syndrome Causes Hunter syndrome
when a mother passes a defective chromosome to her child(passive) is causedHunter syndrome
deficiency or absence of iduronate 2-sulfatase deficiency ( IDS(passive) is caused byHunter syndrome
a deficiency of the enzyme iduronate-2-sulphatase(passive) is caused byHunter syndrome
changes in the IDS gene(passive) is caused byHunter syndrome
mutation in the gene encoding iduronate-2-sulfatase ... IDS).Although the disease is known since the early 1970s ... being the first MPS to be defined clinically in humans(passive) is caused byHunter syndrome
a misbehaving or missing enzyme for cleaning out certain carbohydrates(passive) is caused byHunter syndrome
a missing or malfunctioning enzyme needed to break down some complex molecules(passive) is caused byHunter syndrome
Deficiency of I2S or technically speaking , lack of the enzyme iduronate sulfatase ... this metabolic abnormalityleadsto Hunter syndrome
a change in the IDS gene on their only X chromosomecan causeHunter syndrome
a pathological mutation in the IDS gene located on the X chromosome(passive) is caused byHunter syndrome
mutations in the IDS gene , which codes for the enzyme IDS , also known as I2S , which metabolises carbohydrates known as glycosaminoglycans ( GAGs(passive) is caused byHunter syndrome
a deficiency of iduronate-2-sulfatase , which is an enzyme needed to break down substances in the body called glycosaminoglycans ( GAGs(passive) is caused byHunter syndrome
a practitioner(passive) caused byHunter syndrome
a deficient or absent enzyme(passive) is caused byHunter 's Syndrome
according to the National Institutes of Health(passive) is causedHunter syndrome
defective function of sjgrens syndrome b(passive) caused byHunter syndrome
an enzyme deficiency that results in the buildup of harmful molecules that can affect a person 's appearance , mental development , organ function , and physical abilities(passive) is caused byHunter syndrome
when a defective gene results in malfunction or in some cases complete absence of enzyme iduronate 2-sulfatase.(2(passive) is causedHunter Syndrome
a podiatrist and , if appropriate(passive) caused byHunter syndrome
This video outlinescausesHunter syndrome
the lack of a gene that helps the enzyme to break down the complex molecules of sugar(passive) is caused bythe Hunter syndrome
The complicationsresultingfrom Hunter syndrome
the biliary system(passive) caused byHunter syndrome
an enzyme not being produced(passive) is caused byHunter syndrome
a missing gene that makes an enzyme that breaks down certain carbohydrates(passive) is caused byHunter syndrome
a shortage of the enzymes that the body uses to metabolize certain proteins and sugars(passive) is caused byHunter syndrome
deficiency of the lysososmal enzyme(passive) is caused byHunter syndrome
excessive cramping(passive) caused byHunter syndrome
substances that are only elevated in poorly controlled hyperthyroidism(passive) caused byHunter syndrome
peripheral blood of males for clotting factor viii increase in unstimulated cycles(passive) caused byHunter syndrome
footwear and time every day(passive) caused byHunter syndrome
deficiency of enzyme , iduronate-2-sulfatase ( I2s(passive) is caused byHunter syndrome
the inversion mutationcausingthe Hunter syndrome
uric acid clearance(passive) caused byHunter syndrome
the X - linked deficiency in iduronate-2-sulfatase(passive) is caused byHunter syndrome
with the help of a diagnostic technique called Pre - implantation Genetic Diagnosis ( PGD(passive) can be preventedHunter syndrome
mutations in a gene that produces an enzyme that metabolizes glycosaminoglycan carbohydrates(passive) is caused byHunter Syndrome
the best methodto preventHunter syndrome
the progressive brain damage(passive) caused bythe progressive brain damage
progressive physical effects such as heart and nerve damage , stiff joints , hearing loss , and restricted breathingcausesprogressive physical effects such as heart and nerve damage , stiff joints , hearing loss , and restricted breathing
to all sorts of problems , including less mobility , vision and hearing loss , brain degeneration , and heart diseasecan leadto all sorts of problems , including less mobility , vision and hearing loss , brain degeneration , and heart disease
a deficiency or absence of a lysosomal enzyme , which interferes with the body ’s ability to break down glycosaminoglycans ( GAGscausesa deficiency or absence of a lysosomal enzyme , which interferes with the body ’s ability to break down glycosaminoglycans ( GAGs
hearing loss , thickening of the heart valves leading to a decline in cardiac function , obstructive airway disease , sleep apnea , and enlargement of the liver and spleencausinghearing loss , thickening of the heart valves leading to a decline in cardiac function , obstructive airway disease , sleep apnea , and enlargement of the liver and spleen
a lack of enzyme that allows cellular waste called glycosaminoglycans ( GAGs ) called dermatan sulphate and heparan sulphate to build upcausesa lack of enzyme that allows cellular waste called glycosaminoglycans ( GAGs ) called dermatan sulphate and heparan sulphate to build up
symptoms affecting these areas , such as hearing problems , ear infections , chronic runny nose and problems with swallowingcommonly causessymptoms affecting these areas , such as hearing problems , ear infections , chronic runny nose and problems with swallowing
permanent , progressive damage affecting appearance , mental development , organ function , and physical abilitiescausespermanent , progressive damage affecting appearance , mental development , organ function , and physical abilities
hearing loss , thickening of the heart valves leading to a decline in cardiac function , obstructive airway disease , sleep apnea , and[en.wikipedia.org ] [ … ] disease in which death usually occurs by the third decade of life ( mostly from cardiopulmonary compromise ) , despite steroid treatmentcausinghearing loss , thickening of the heart valves leading to a decline in cardiac function , obstructive airway disease , sleep apnea , and[en.wikipedia.org ] [ … ] disease in which death usually occurs by the third decade of life ( mostly from cardiopulmonary compromise ) , despite steroid treatment
her son ’s organs to be larger than normal and that he would continue to suffer from respiratory problems , sleep apnea , ear infections and cognitive issueswould causeher son ’s organs to be larger than normal and that he would continue to suffer from respiratory problems , sleep apnea , ear infections and cognitive issues
in its severe formcausesin its severe form
typicallycausestypically
developmental delays and physical deteriorationscan causedevelopmental delays and physical deteriorations
disfigurationcan causedisfiguration
progressive loss of skills and an average life span in the early teenscausesprogressive loss of skills and an average life span in the early teens
from enzyme deficiencyresultsfrom enzyme deficiency
them to develop similar facial features , resembling one another enough to be mistaken for brotherseven causesthem to develop similar facial features , resembling one another enough to be mistaken for brothers
vertebrobasilar insufficiency in a young man with neck muscle hypertrophycausingvertebrobasilar insufficiency in a young man with neck muscle hypertrophy
abnormalities in the skeleton , heart and respiratory systemcan causeabnormalities in the skeleton , heart and respiratory system
abnormalities in many organs , including the skeleton , heart , and respiratory systemcausesabnormalities in many organs , including the skeleton , heart , and respiratory system
to development of carpal tunnel syndrome in young children resulting in a further decrease in hand functioncan also leadto development of carpal tunnel syndrome in young children resulting in a further decrease in hand function
cells in the body to be constantly damaged to the point where the body becomes completely crippledcausescells in the body to be constantly damaged to the point where the body becomes completely crippled
with their intestinescreateswith their intestines
in dysfunction of various organ systemsalso resultsin dysfunction of various organ systems
in growth and facial feature irregularitiescan resultin growth and facial feature irregularities
A mouse model for MPS II(passive) was createdA mouse model for MPS II
a Pharma Vulnerability Index ( PVIHow to createa Pharma Vulnerability Index ( PVI
oftencausesoften
seeminglycausesseemingly
the organs to swell due to dead cells building up in the bodycausesthe organs to swell due to dead cells building up in the body
from a mutation in a gene for an enzyme that cells need to break down certain sugarsresultsfrom a mutation in a gene for an enzyme that cells need to break down certain sugars
the cognitive decline(passive) caused bythe cognitive decline
to enhance our understanding of the natural history of the disease and to monitor the safety and efficacy of enzyme replacement therapydesignedto enhance our understanding of the natural history of the disease and to monitor the safety and efficacy of enzyme replacement therapy
neurological , cardiac and respiratory problemswill eventually causeneurological , cardiac and respiratory problems
progressive loss of cognitive and physical function with an average life span in the early teenscausesprogressive loss of cognitive and physical function with an average life span in the early teens
a gradual decline in vision due to diarrhea and the cloudingcausesa gradual decline in vision due to diarrhea and the clouding
the neurocognitive decline(passive) caused bythe neurocognitive decline
progressive physical and mental deteriorationcausesprogressive physical and mental deterioration
significant physical differencecan causesignificant physical difference
from a defect in iduronidate sulfatase activityresultsfrom a defect in iduronidate sulfatase activity