phenylketonuria in English

noun
1
an inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated.
Several diseases are directly caused due to single nucleotide changes such as thalassaemia, muscular dystrophy, phenylketonuria , long QT syndrome, familial hypertrophic cardiomyopathy etc.

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1. Conclusion:The special bone changes in phenylketonuria were important X-ray signs suggestive of phenylketonuria.

2. Objective To study the method for gene diagnosis of phenylketonuria.

3. Samples obtained through screening programme for phenylketonuria and congenital hypothyroidism.

4. Objective To report the bone X ray changes in phenylketonuria.

5. In other words, children with phenylketonuria can and should have a normal productive life.

6. Precaution is advised in patients with phenylketonuria, as formulations of strontium ranelate contain phenylalanine.

7. The management of phenylketonuria in childhood requires a multidisciplinary approach across the hospital community interface.

8. Objective To establish a simple[sentence dictionary], accurate and rapid method for screening of the mutant genes in phenylketonuria (PKU).

9. Virtually all newborn infants are screened for such serious hereditary conditions as phenylketonuria, hypothyrosis and adrenogenital syndrome.

10. Objective To establish a simple, accurate and rapid method for screening of the mutant genes in phenylketonuria.

11. This result showed that PCR-SSCP analysis could be effectively used for the direct gene diagnosis of phenylketonuria.

12. 16 Maternal teratogens that hae been reported in association with cleft lip and palate include alcohol, maternal phenylketonuria , hyperthermia, hydantoin, trimethadione, aminopterin,[www.Sentencedict.com] and methotrexate.

13. The EEG in 94 patients with phenylketonuria was analyzed. The abnormality rate of EEG was 65%, mainly showing epileptiform discharges(80%), partly showing background activity abnormality(20%).

14. REGISTRATION WILL PROGRESSIVELY EXTEND TO ABNORMALITIES OF THE NERVOUS SYSTEM ( ANENCEPHALY , SPINA BIFIDA , ETC ) , DOWN'S SYNDROME , GROSS ABNORMALITIES OF THE LIMBS , MULTIPLE ABNORMALITIES , PHENYLKETONURIA AND COELIAC DISEASE .

15. The composition may in particular be used in the treatment of a human suffering from a disorder selected from the group consisting of phenylketonuria, homocystinuria, maple syrup urine disease, tyrosinaemia, propionic acidaemia, methylmalonic acidaemia, isovaleric acidaemia, urea cycle disorders and glutaric aciduria.

16. However, certain people with the genetic disease phenylketonuria (PKU), those with advanced liver disease, and pregnant women with hyperphenylalanine (high levels of phenylalanine in blood) have a problem with Aspartame because they do not effectively metabolize the amino acid phenylalanine, one of Aspartame's

17. Pre-natal health care includes physical examinations, hemogram, obstetric ultrasounds as well as the screening for Down Syndrome, for congenital hypothyroidism, phenylketonuria (PKU), congenital adrenocorticotrophic hyper function (CAT) as well as for glucose-6-phosphate dehydrogenase deficiency.

18. Also disclosed is a method for treatment, amelioration or prophylaxis of a disease selected from the group consisting of phenylketonuria (PKU, Følling's disease), hyperphenylalaninemia (HPA), alcaptonuria (black urine disease), tyrosinemia, hypertyrosinemia, myasthenia gravis, histidinemia, urocanic aciduria, maple syrup urine disease (MSUD), isovaleric acidemia (isovaleryl-CoA dehydrogenase deficiency), homocystinuria, propionic acidemia, methylmalonic acidemia, and glutaric aciduria Type 1 (GA-I), galactosemia, comprising administering to the gastrointestinal tract of a patient in need thereof an effective amount of a composition of molecular imprinted polymers (MIPs), said composition being capable of binding a symptom provoking agent of said disease.