209 results on '"Isshiki G"'
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2. Prenatal Diagnosis of Tetrahydrobiopterin (BH4) Synthase Deficiency
3. Biopterin and Neopterin in Various Milks and Infant Formulas
4. Fetal Guinea-Pig Model for Tetrahydrobiopterin Deficiency
5. Molecular genetics of Tay-Sachs disease in Japan
6. Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects
7. Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype
8. Variation of lysosomal enzyme activity with gestational age in chorionic villi
9. The HLA-DOB gene displays limited polymorphism with only one amino acid substitution
10. Limited polymorphism in the HLA-DOA gene
11. A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency
12. Extended HLA haplotypes in Japanese homozygous typing cells
13. HLA-DRB4 genotyping by PCR-RFLP: diversity in the associations between HLA-DRB4 and DRB1 alleles
14. Fetal guinea-pig model of tetrahydrobiopterin deficiency
15. Levels of neopterin, biopterin, 5-hydroxyindoleacetic acid, and homovanillic acid in cerebrospinal fluid of sick neonates and infants
16. Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in East Asia.
17. Analysis on allelic variation of the HLA-DMB gene in Japanese by PCR-RFLP as well as direct DNA sequencing and identification of a new DMB allele, DMB*0105
18. Lack of expression of antigens for islet cell antibodies in rat fetal pancreas
19. Investigation of Unusual Metabolites in the Urine of a Patient with Propionic Acidemia
20. Short tandem repeat polymorphisms in Japanese families with phenylketonuria
21. Immunofluorescence staining and immunological studies of arylsulphatase a of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts
22. Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria
23. Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency
24. TRANSIENT NEONATAL HYPERPHENYLALANINEMIA DUE TO DEFECTIVE SYNTHESIS OF 7,8-DIHYDROBIOPTERIN
25. Extended HLA haplotypes in Japanese homozygous typing cells
26. Normal pterin values in urine and serum in neonates and its age-related change throughout life
27. Molecular characterization of galactokinase deficiency in Japanese patients
28. Impaired retinal artery blood flow in IDDM patients before clinical manifestations of diabetic retinopathy
29. A new Japanese case of succinyl‐CoA: 3‐ketoacid CoA‐transferase deficiency
30. The Major Mutation Among Japanese Patients with Infantile Tay-Sachs Disease: A G-to-T Transversion at the Acceptor Site of Intron 5 of the β-Hexosaminidase α-Gene
31. Vertical transmission of hepatitis C virus (HCV) detected by HCV-RNA analysis.
32. Transmission of Hepatitis C Virus from Mothers with Chronic Hepatitis C without Human Immunodeficiency Virus
33. Familial clustering of HCV
34. Mother-to-Child Transmission of Hepatitis C Virus
35. HLA-DQ antigens and DQβ amino acid 57 of Japanese patients with insulin-dependent diabetes mellitus: detection of a DRw8DQw8 haplotype.
36. Efficacy of Kan-baku-taiso-to (TJ-72) on Breath-Holding Spells in Childern.
37. HLA DPB1*0201 gene confers disease susceptibility in Japanese with childhood onset Type I diabetes, independent of HLA-DR and DQ genotypes
38. Antibodies to GAD in Japanese diabetic patients: a multicenter study
39. Glycemic control, growth and complications in children with insulin-dependent diabetes mellitus - a study of children enrolled in a Summer camp program for diabetics in Kinki district, Japan
40. Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old
41. Angiotensin Converting Enzyme Gene Polymorphism and Renal Artery Resistance in Patients with Insulin Dependent Diabetes Mellitus
42. Effects of cold exposure on nuclear thyroid hormone receptors: increased affinity for the hormone
43. Mother-to-child transmission of hepatitis C virus [2]
44. Immunofluorescence staining and immunological studies of arylsulphatase a of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts
45. Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulphatase deficiency
46. Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria
47. Variation of lysosomal enzyme activity with gestational age in chorionic villi
48. FETAL GUINEA - PIG MODEL FOR TETRAHYDROBIOPTERIN DEFICIENCY.
49. CHANGES IN THE NEOPTERIN AND BIOPTERIN LEVELS OF HUMAN BREAST MILK AFTER DELIVERY.
50. PRENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIN(BH4) SYNTHETASE DEFICIENCY.
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