33 results on '"Tada, K."'
Search Results
2. Influence of ageing on onset of mitochondrial disease
3. Prenatal diagnosis in a new peroxisomal disease by the W-particle separation method
4. Clinical and biochemical phenotype of the MELAS mutation
5. Propionic acidaemia: Sequence analysis of mutant mRNAs from Japanese β subunit-deficient patients
6. Non-ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiology
7. Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts
8. Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer
9. Genomic analysis of non-ketotic hyperglycinaemia: A partial deletion of P-protein gene
10. Simple and rapid detection of phenylketonuria mutation tightly linked to haplotype 2 by modified polymerase chain reaction
11. An 84bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA
12. Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy
13. Cloning of a defective gene encoding the pyruvate dehydrogenase E1α subunit from a patient with its deficiency
14. Immunochemical study in three patients with cytochromec oxidase deficiency presenting leigh's encephalomyelopathy
15. A new variant of glycogen storage disease type 1: Probably due to a defect in the glucose-6-phosphate transport system
16. Biosynthesis of peroxisomal membrane polypeptides in infants with Zellweger syndrome
17. Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency
18. Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b
19. S-Adenosylhomocysteine hydrolase activity in a lymphoblastoid cell line from a patient with adenosine deaminase deficiency disease
20. Non-ketotic hyperglycinaemia due to a deficiency of T-protein in the glycine cleavage system in liver and brain
21. Kinetic studies on the glucose-6-phosphate transport system in rat hepatic microsomal membrane
22. Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of p-protein of the glycine cleavage complex
23. The abnormality of peroxisomal membrane proteins in Zellweger syndrome
24. Hyperornithinaemia associated with gyrate atrophy of the choroid and retina:In vivo andIn vitro response to vitamin B6
25. Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase
26. Kinetic properties of the glucose-6-phosphate transport system in rat hepatic microsomal membranes
27. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies
28. Two siblings with cytochromec oxidase deficiency
29. Genetic heterogeneity of glycogen storage disease type 1b: Microsomal glucose-6-phosphatase system in two patients with different clinical symptoms
30. Atypical non-ketotic hyperglycinaemia
31. Pyruvate carboxylase activity in lymphoblasts
32. Hyperornithinaemia with gyrate atrophy: Pathophysiology and treatment
33. Differential diagnosis of variant forms of hyperphenylalaninaemia by urinary pterins
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