1208 GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE SCREENING
نویسندگان
چکیده
منابع مشابه
The Philadelphia chromosome and galactose-1-phosphate uridyl transferase.
\ ‘7ith the technical assistance of Jean Downes T FIE OCCURRENCE OF chromosomal abnormalities in humans provides a method for investigating the function of specific chromosomes. In trisomy-21 many studies have l)een carried out in an attempt to evaluate the functions of this autosome.l h Another abnormality of the 21 group is found in patients with chronic myelogenous leukemia. In these cases, ...
متن کاملA mouse model of galactose-1-phosphate uridyl transferase deficiency.
Galactose-1-phosphate uridyl transferase (GALT) deficiency causes classical galactosemia in humans. Mice deficient in this enzyme were created by gene targeting. GALT-deficient mice develop biochemical features similar to those seen in humans with GALT deficiency, but fail to develop the pattern of acute toxicity seen in newborns with classical galactosemia. This study suggests that alternative...
متن کاملPurification and properties of galactose 1-phosphate uridyl transferase from Escherichia coli.
Gdactose l-phosphate uridyl transferase found in galactoseadapted yeast by Kalckar et al. (l), catalyzes the following reaction: UDP-glucose + galactose*-1-P ti UDP-galactose + glucose-1-P. A method for partial purification of galactose l-phosphate uridyl transferase from calf liver and application of this enzyme to the determination of galactose l-phosphate have been described (2). In the latt...
متن کاملEndometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT).
To explore a possible connection between endometriosis, Müllerian anomalies, and possession of the N314D allele of the gene for galactose-1-phosphate uridyl transferase (GALT), we studied 33 women with endometriosis attending a fertility clinic. Patients completed questionnaires and had DNA tested for the N314D mutation of GALT. A previously completed general population survey of 111 women whic...
متن کاملDuarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.
OBJECTIVE To investigate whether galactose-1-phosphate uridyl transferase (GALT) variant genotypes were associated with epithelial ovarian cancer risk, and to determine if this association was modified by lactose intake. DESIGN Two prospective cohort studies and a case-control study. SETTING Academic institution. PATIENT(S) A total of 992 cases and 1,050 population-based control samples f...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-01238