A5103089081- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Neonatal Health and Biochemistry
- Hepatitis B Virus Studies
- Neonatal Respiratory Health Research
- Folate and B Vitamins Research
- Hepatitis C virus research
- Liver Disease Diagnosis and Treatment
- Mitochondrial Function and Pathology
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Hemoglobin structure and function
- Congenital Diaphragmatic Hernia Studies
- Mass Spectrometry Techniques and Applications
- Iron Metabolism and Disorders
- Neonatal and fetal brain pathology
- Prenatal Screening and Diagnostics
- Craniofacial Disorders and Treatments
- Diabetes and associated disorders
- CRISPR and Genetic Engineering
- RNA Interference and Gene Delivery
- Neonatal skin health care
- Hepatitis Viruses Studies and Epidemiology
- Viral gastroenteritis research and epidemiology
Osaka Medical Center for Cancer and Cardiovascular Diseases
1995-2018
Nagoya City University
1996-2015
Tohoku University
1963-2015
Berurando General Hospital
2011
Mizuho (Japan)
1996-2001
National Institute of Animal Health
1996-2001
Nagasaki University
1995
Nagoya University
1994
Akita University
1994
Osaka University
1994
Vulnerability to cerebral hypoxic-ischemic (H-I) insult and its relation disruption of the blood-brain barrier were investigated in postnatal rats.Pups day (P) 7, P14, P21 underwent ligation a unilateral carotid artery exposed hypoxic conditions. For detection early-phase deterioration, brains perfusion-fixed 24 hours after H-I examined by argyrophil III method. later infarction, animals fixed at 72 insult.In either case, tissue damage was detected striatum, parietal cortex, hippocampus. The...
A probably new entity of metabolic error folic acid was described an infant whose clinical and biochemical characteristics were: 1) mental retarda-tion a marked dilatation cerebral ventricles, 2) abnormally high serum L. casei folate activity, 3) levels precursor in erythrocytes, 4) rise reticulocyte count by exogenous supplementation. The results investigation on tetrahydrofolate-dependent enzymes liver specimens revealed decreased activity N5 methyltetrahydrofolate transferase our own...
Abstract A follow‐up study of the cases detected by a newborn mass‐screening program has been performed during 1977–1985 collaborative group. The number hyperphenylalaninemic patients was 148, yielding calculated incidence one in 82,000. Of these patients, 102 were confired as classical PKU, 37 hyperphenylalaninemia, and 9 biopterine deficiency. ratio deficiency to PKU about 9%. maple syrup urine disease estimated 580,000, homocystimuria galactosemia found be markedly low. Our survey...
The metabolism of the peripheral leucocyte has been studied in a child presenting with mental retardation and hypervalinemia. A defect transamination valine was demonstrated. Evidence is presented that value dependent on an enzyme specific for valine. Transamination demonstrable placenta, suggesting possibility diagnosis may be made before birth.
To evaluate the prevalence of dihydropyrimidinuria (DHPuria), we analyzed urine samples from 21,200 healthy Japanese infants, and found two cases DHPuria without clinical symptoms. Based on this result, estimated to be approximately 1/10,000 births in Japan. In addition, pyrimidine catabolism a previously reported family with an adult case. We newly identified sister propositus as second case family, because she excreted large amounts dihydrouracil dihydrothymine. The parents child showed...
In order to investigate the relationship between changes in glycosylation and placental materno-fetal transport of Immunoglobulin G (IgG), profiles IgG from healthy pregnant women their umbilical cords at delivery were compared by use a recently established high-performance liquid chromatography (HPLC) method. From results neutral oligosaccharide analysis, digalactosyl glycoform (G2) was markedly increased as with that age-matched controls. Furthermore, quantity cord found be higher than...
We studied ultrasound findings and neurodevelopmental outcome of 24 infants weighing 2500 g or less with cystic periventricular leukomalacia. Fourteen had symmetrical cysts in the parietal occipital region (group 1) 10 non‐symmetrical 2). Each infant was followed for more than 4 years age (mean 5 7 months). Twenty out (83.3%) children developed cerebral palsy. All group 1 palsy (8 diplegia 6 ataxic diplegia), while (60%) 2 (4 hemiplegia). There a significant difference incidence motor...
Two infants of homocystinuria with a defective activity the N5, 10-Methylenetetrahydrofolate reductase in liver, kidney, brain and/or leukocytes were reported. Contrary to four cases similar biochemical defects reported up date, two ours demonstrated peculiar clinical features charact-erized by an early onset infancy, fits apnea and seizures, downhill course coma, death within one year life. Thus "an infantile type" this disorder was advanced as new entity. Assay for...