منابع مشابه
Galactosemia diagnosis gets an upgrade.
Classic galactosemia, a defect of the metabolism of galactose, was one of the earliest defects of intermediary metabolism to be recognized in the mid 20th century (1, 2 ). The disease is caused by a defect of galactose-1phosphate uridyltransferase (GALT), an enzyme central to the Leloir pathway in which galactose is converted into glucose. Galactose is primarily derived from the lactose content...
متن کاملQuantitative Bacterial Micro-Assay for Rapid Diagnosis of Galactosemia: Application in Galactosemia Neonatal Screening
In the present study a new economic and rapid bacterial micro-assay for simultaneous detection and quantitative measurement of serum galactose was developed. Analysis of the standard curve showed a linearity range for galactose from 2 mg/dL to 180 mg/dL with a regression equation of Y = 0.013X ? 0.083; R² = 0.962. The advantage of the method is its ability to measure serum galactose quantitativ...
متن کاملProblems in the diagnosis of transferase and galactokinase deficient galactosemia.
Galactose in serum and galactose-1-phosphate in erythrocytes were measured in six transferase deficient children to determine if these metabolites could be used in detecting transferase deficient galactosemia. In all six children the galactose levels were normal and the galactose-1-phosphate elevated. The galactose level depends on diet and the rate of metabolism to galactose-1-phosphate and, t...
متن کاملAn Unusual Presentation of Galactosemia: Hemophagocytic Lymphohistiocytosis
UNLABELLED Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult. It may presents in many forms such as fever of unknown origin, hepatitis, acute liver failure, and sepsis-like illness. Here w...
متن کاملVitamin D Gets An “A”
A. I was interested in science when I started college, and I was thinking about becoming a veterinarian. After gaining some practical experience in vet clinics and not getting into vet school the first time I applied, I grew impatient and applied for a master’s program in genetics at Oregon State University, where I was an undergraduate. I completed the program and published two papers on bacul...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2010
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2010.145359