スポンサーリンク
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences | 論文
- Interleukin-1β induces the expression of lipocortin 1 mRNA in cultured rat cortical astrocytes
- Severity of Virilization of External Genitalia in Japanese Patients with Salt-wasting 21-hydroxylase Deficiency
- Automated determination of 5-fluorouracil and its metabolite in urine by high-performance liquid chromatography with column switching
- Alteration of Ammonia and Carnitine Levels in Short-Term Treatment with Pivalic Acid-Containing Prodrug
- Hereditary Orotic Aciduria Heterozygotes Accompanied with Neurological Symptoms
- A case of holocarboxylase synthetase deficiency with insufficient response to prenatal biotin therapy
- Long follow up of betaine therapy in two Japanese siblings with cystathionine β-synthase deficiency
- Novel mutations in the cytochrome P450 2C19 gene : a pitfall of the PCR-RFLP method for identifying a common mutation
- A Simple Quantitative Assay for Urinary Adenosine Using Column-Switching High-Performance Liquid Chromatography
- Urinary uracil in female patients with ornithine transcarbamylase deficiency
- Possible Relationship between Elevated Plasma ACTH and Tall Stature in Familial Glucocorticoid Deficiency
- Multiple sclerosis with onset of cerebellar ataxia in an 18-month-old girl
- Urinary pyrimidine analysis in healthy newborns, infants, children, adults and patients with congenital metabolic diseases
- Vitamin B_6-Responsive Ornithine Aminotransferase Deficiency with a Novel Mutation G237D
- An intervention to improve the interrater reliability of clinical EEG interpretations
- Polymorphisms of the Factor VII Gene Associated with the Low Activities of Vitamin K-Dependent Coagulation Factors in One-Month-Old Infants
- Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency
- Screening for Pyrimidine Metabolism Disorders Using Dried Filter-Paper Urine Samples : Method Development and a Pilot Study in Nagoya City, Japan
- Correlation between Magnetic Resonance Imaging and Clinical Profiles of Periventricular Leukomalacia
- National survey of periventricular leukomalacia in Japan