スポンサーリンク
Division of Human Genetics, Medical Research Institute, Kanazawa Medical University | 論文
- Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl
- Tyrosinemia type I in Thailand : A report of 4 cases
- Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease
- Successful Treatment by Direct Hemoperfusion of Coma Possibly Resulting From Mitochondrial Dysfunction in Acute Valproate Intoxication
- Tyrosinemia type I in Thailand-A report of 4 cases
- Inherited metabolic disorders in Thai infants identified by Gas-Liquid Chromatography and Mass spectrometry (GC/MS)
- Changes in urinary level and configuration ratio of D-lactic acid in patients with short bowel syndrome
- Simple and quantitative analysis of urinary sulfated tauro- and glycodihydroxycholic acids in infant with cholestasis by electrospray ionization mass spectrometry
- Application of optical isomer analysis by diastereomer derivatization GC/MS to determine the condition of patients with short bowel syndrome
- Stability of 5-aminolevulinic acid on dried urine filter paper for a diagnostic marker of tyrosinemia type I
- Differential chemical diagnosis of primary hyperoxaluria type II : Highly sensitive analysis of optical isomers of glyceric acid by GC/MS as diastereoisomeric derivatives
- Quantification of urinary 5-aminolevulinic acid by gas chromatography-mass spectrometry
- Simple gas chromatographic-mass spectrometric procedure for diagnosing pyrimidine degradation defects for prevention of severe anticancer side effects
- Differential diagnosis of homocystinuria by urease treatment, isotope dilution and gas chromatography-mass spectrometry
- Differential diagnosis of homocystinuria by urease treatment, isotope dilution and gas chromatography-mass spectrometry
- Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography - mass spectrometry
- Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS
- A Simple and Rapid Method for DNA Transformation of Intact Cells of Bacillus by Electroporation
- Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry