منابع مشابه
Dietary management of galactosemia.
Galactosemia is detected by newborn screening in New South Wales and managed by the metabolic team at the Children's Hospital at Westmead. Infants with the Duarte variant are not treated. Management is based on the Handbook for Galactosemia prepared in 1998. This handbook provides information for the family on the dietary management, inheritance and ovarian function. The major dietary sources o...
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 کاملCranial CT in Galactosemia
Before the advent of antituberculous agents, complete surgical excision of intracerebral tuberculoma offered the only chance for survival , generally with poor results 111 . Currently, however, these agents are the treatment of choice for CNS tuberculoma, with surgery reserved for cases of uncontrolled intracranial pressure of failure of medical therapy [21 . Symptomatically, neoplastic and vas...
متن کاملGALACTOSEMIA Web DB: A web accessible database of Galactosemia related proteins
Extended Abstract Galactose is a monosaccharide present in several foods and, once introduced into the body, it is metabolised by a biochemical pathway involving three enzymes: galactokinase (GALK), galactose1-phosphate uridylyltransferase (GALT), and UDP-galactose-4'-epimerase (GALE). Hereditary deficiencies of these three enzymes in humans are related to three different forms of the genetic d...
متن کاملClassic Galactosemia: Indian Scenario.
Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1phosphate uridyltransferase (GALT). Most affected babies develop severe manifestations such as failure to thrive, vomiting, diarrhea, hypoglycemia, hypotonia, jaundice (which is often unconjugated in the beginning) and cataracts within 1-2 weeks of starting milk feeding [1,...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00297