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biotinidase deficiency/hearing loss
Lidhja ruhet në kujtesën e fragmenteve
Faqja 1 nga 36 rezultatet
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Children with symptoms of profound biotinidase deficiency with null mutations are more likely to have hearing loss develop than those with missense mutations, even if not treated for a period of time. Hearing loss appears to be preventable in children with null mutations if treatment is initiated
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with
Rat as a potential model for hearing loss in biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Biotinidase deficiency is an inborn error of metabolism that is transmitted as an autosomal recessive disorder. Symptoms include hearing loss, ataxia, blindness, mental retardation, and seizures. The metabolic defect is an inability to recycle the vitamin biotin, which is an important cofactor in
Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many of the features of the disorder are reversible following treatment with biotin, the hearing loss appears to be irreversible.
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
OBJECTIVE
To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency.
METHODS
Fifteen cases detected through newborn screening and six through selective screening for hearing loss or metabolic disease.
RESULTS
No patient detected by neonatal
Hearing loss in biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Long-term follow-up of hearing loss in biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Brainstem and spinal cord lesions associated with skin changes and hearing loss: think of biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Screening for biotinidase deficiency in children with unexplained neurologic or developmental abnormalities.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unexplained developmental delay or neurologic abnormalities than in the general population, we studied children seen at a large outpatient clinic over a four-year period who had one or more of these
A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and
Audiologic findings in children with biotinidase deficiency in Turkey.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
OBJECTIVE
Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous features, including sensorineural hearing loss. Although many features of the disorder are reversible following treatment with biotin, the hearing loss appears to be
Biotinidase deficiency in childhood.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
This study reports the clinical, laboratory profile and outcome in seven patients with biotinidase deficiency. The serum biotinidase activity was assayed using spectrophotometric analysis. The age at presentation varied from day 1 of life to the 5 th month. Seizures were the presenting complaint in
Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.
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Identifikohuni Regjistrohu
BACKGROUND
Biotinidase deficiency (BTD) is an inborn error of biotin metabolism inherited as an autosomal recessive trait. Due to the, biotinidase deficiency, biotin is not recycled. Individuals with BTD usually exhibit neurological and cutaneous abnormalities unless treated with biotin.
Baza e të dhënave më e plotë e bimëve medicinale e mbështetur nga shkenca
- Punon në 55 gjuhë
- Kurime bimore të mbështetura nga shkenca
- Njohja e bimëve nga imazhi
- Harta GPS interaktive - etiketoni bimët në vendndodhje (së shpejti)
- Lexoni botime shkencore në lidhje me kërkimin tuaj
- Kërkoni bimë medicinale nga efektet e tyre
- Organizoni interesat tuaja dhe qëndroni në azhurnim me kërkimet e lajmeve, provat klinike dhe patentat
Shkruani një simptomë ose një sëmundje dhe lexoni në lidhje me barërat që mund të ndihmojnë, shtypni një barishte dhe shikoni sëmundjet dhe simptomat që përdoren kundër.
* I gjithë informacioni bazohet në kërkimin shkencor të botuar
