نتایج جستجو برای: early treated phenylketonuria etpku
تعداد نتایج: 1110023 فیلتر نتایج به سال:
In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort. This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). Taking...
This experiment was performed to investigate whether feeding xylose-treated soybean meal (XSBM) or corn gluten meal (CGM) is economically better under field conditions. Ninety-four multiparous early lactating Holstein cows (55±5 days in milk and 2.82±0.41 body condition score) were used in a completely randomized design. Cows were randomly assigned to one of two treatments: XSBM or CGM as the m...
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequently diagnosed with phenylketonuria. This case illustrates that because the majority of autism cases are id...
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed l...
Background and purpose: Phenylketonuria (PKU), a genetic disorder with an autosomal recessive pattern of inheritance, is mainly due to phenyalanine hydroxylase deficiency. In Iran, many studies have investigated the genetics of this disease among different populations. This study aimed to report the frequencies of the mutations for each population as determined in different studies. Material...
BACKGROUND Phenylketonuria (PKU) is caused by the inherited defect of the phenylalanine hydroxylase enzyme, which converts phenylalanine (Phe) into tyrosine (Tyr). Neonatal screening programs and early treatment have radically changed the natural history of PKU. Nevertheless, an increased risk of neurocognitive and psychiatric problems in adulthood remains a challenging aspect of the disease. I...
Newborn screening has existed for approximately four decades. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, treatment/management, and system evaluation. At a time when newborn screening is recognized as a model f...
The incidence of phenylketonuria (PKU) in Finland is extremely low, probably below 1 in 100,000. We describe the mutations and haplotypes in all four presently known patients. Mutation R408W was found on four mutant chromosomes (all haplotype 2), and IVS7nt1, R261Q, and IVS2nt1 were each found on a single chromosome. No mutation was found on the remaining chromosome. These findings support a pr...
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