21 results on '"Wada, Y."'
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2. The application of HPLC/ESI tandem mass spectrometry on urine-soaked filter-paper strips for the screening of disorders of purine and pyrimidine metabolism
3. A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach
4. Pyrimidine metabolism in hereditary orotic aciduria
5. Dihydropyrimidinuria without clinical symptoms
6. Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism
7. Quantitative analysis of amniotic fluid pyrimidines for the prenatal diagnosis of hereditary orotic aciduria
8. Decreased blood coagulation activities in carbohydrate‐deficient glycoprotein syndrome
9. Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia
10. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency
11. Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency
12. Different ketogenic response to medium‐chain triglycerides and to long‐chain triglycerides in a case of muscular carnitine palmitoyltransferase deficiency
13. Biochemical evidence of carnitine effect on propionate elimination
14. Identification of glutarylcarnitine in glutaric aciduria type 1
15. Pyroglutamic aciduria in propionyl CoA carboxylase deficiency
16. Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
17. Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
18. β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
19. Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
20. Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age.
21. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
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