orotic aciduria in Vietnamese

Axìt orotìc - nìệu.

Sentence patterns related to "orotic aciduria"

1. Amino-aciduria was normal.

2. L-2-Hydroxyglutaric aciduria).

3. Treatment of methylmalonic aciduria, isovaleric aciduria, and other organic acidurias with tocotrienol quinones

4. The characteristic neuroradiologic manifestations of glutaric aciduria type I are illustrated.

5. Despite repeated dicarboxylic aciduria we could not find enzymatic disorders of fatty acid oxydation.

6. We present an algorithm for the rational diagnosis of glutaric aciduria type I (GA1).

7. Barth's syndrome develops in male children with granulocytopenia, dilated cardiomyopathy, and methylglutaconic aciduria.

8. Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait.

9. The neurological outcome of children with type I glutaric aciduria has improved dramatically in Germany over the last 10 years.

10. • Innate metabolic error (type 1 hereditary tyrosinemia, hyperammoniemia due to urea cycle anomalies, organic aciduria, mitochondrial cytopathies) Not Applicable

11. A patient with argininosuccinic aciduria was charged with 50 grams of protein, which was followed by considerable hyperammonemia.

12. In humans, L-2-Hydroxyglutaric aciduria was the first disease linked to a missing metabolite repair enzyme.

13. We present case histories on the clinical course, biochemical and radiologic findings of patients with glutaric aciduria type I, Canavan's Disease, L-2-OH-glutaric aciduria and one patient with macrocephaly and isolated complex I deficiency of the respiratory chain.

14. Discussion: In conclusion, Reye-like syndromes and dicarboxylic aciduria in infancy may be the first signs of cystic fibrosis.

15. Urine organic acid analysis by gas chromatography-mass spectrometry (GC-MS) will show a pattern of dicarboxylic aciduria with low levels of ketones.

16. The influence of orotic acid on the experimental galactose cataract in the albino rat is described and an attempt is made to explain the resulting morphological and histochemical findings.

17. In case of coma, intoxications in relation to urea cycle disorder, organic aciduria or maple syrup urine disease should be considered.

18. Thus, type I glutaric aciduria is a good example to demonstrate the power of interdisciplinary translational research and structured medical care for patients with rare diseases.

19. Disorders of energy metabolism and “endogenous intoxications” (syndromes leading to hyperammonemia, hyperhomocysteinemia, porphyria, aminoacidopathy, and organic aciduria) represent the two major categories of IEMs.

20. Vigabatrin may increase the amount of amino acids in the urine possibly leading to a false positive test for certain rare genetic metabolic disorders (eg, alpha aminoadipic aciduria

21. To present the anesthetic management for the correction of a ventricular septal defect (VSD) in a patient with multiple acyl CoA dehydrogenase deficiency (glutaric aciduria type II; GAII).

22. This improvement can be attributed to the formulation and implementation of evidence-based therapeutic recommendations as well as the inclusion of type I glutaric aciduria in newborn screening programs.

23. Glutaric aciduria type I is a disease caused by deficiency of the enzyme Glutaryl CoA-Dehydogenase with an increased urinary excretion of glutaric and 3-hydroxy-glutaric acid.

24. The present invention relates to methods of treating methylmalonic aciduria and other organic acidurias with tocotrienol quinones, including alpha-tocotrienol quinone, in order to alleviate symptoms of the disease.

25. We report on two patients in whom glutaric aciduria type I was misdiagnosed as battered child syndrome because of subdural hygromas which are a peculiar feature of the underlying metabolic disease.