|1.||Berry, Gerard T: 5 articles (05/2012 - 01/2008)|
|2.||Elsas, L J: 5 articles (04/2001 - 03/2000)|
|3.||Tang, Manshu: 4 articles (02/2015 - 11/2005)|
|4.||Lai, Kent: 4 articles (02/2015 - 11/2005)|
|5.||Bosch, Annet M: 3 articles (12/2007 - 05/2004)|
|6.||Singh, R H: 3 articles (12/2000 - 03/2000)|
|7.||Zater, Mokhtar: 2 articles (04/2015 - 11/2012)|
|8.||Chen, Jie: 2 articles (05/2014 - 11/2003)|
|9.||Lee, Dong Hwan: 2 articles (01/2014 - 10/2010)|
|10.||Song, Junghan: 2 articles (01/2014 - 10/2010)|
03/01/2010 - "Availability of the galactose-1-phosphate uridyltransferase (GALT) assay for newborn (NB) screening has improved identification of classic galactosemia. "
02/01/2000 - "A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. "
08/01/1994 - "This study was conducted to determine whether there is a genotype/phenotype correlation between aspects of cognitive, neurologic, and ovarian outcome in patients with galactosemia and the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. "
01/01/1978 - "This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and eight children): four of these with clinical diagnosis of classical galactosemia. "
01/01/2014 - "Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC126.96.36.199) protein due to mutations in the GALT gene. "
09/01/1991 - "[Study of galactose-1-phosphate uridyltransferase activity in erythrocytes of patients with presenile cataract]."
01/01/2003 - "Impaired activity of the enzyme galactose-1-phosphate uridyltransferase (GALT) has been proposed as a risk factor for idiopathic presenile cataract. "
01/01/2003 - "Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract."
01/01/1987 - "We have evaluated the levels of red blood cell galactose-1-phosphate uridyltransferase in 20 patients with cataract and in 15 subjects without cataract, suffering from compensated, noninsulin-dependent, type II diabetes. "
05/01/1996 - "Classical galactosaemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is characterized by acute symptoms of hepatocellular dysfunction, sepsis, cataracts and failure to thrive. "
|3.||Primary Ovarian Insufficiency
10/01/2005 - "The present study was aimed at mutational screening of the gene coding for galactose-1-phosphate uridyltransferase in females with premature ovarian failure within an Indian population. "
12/01/2007 - "Female patients with classical galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) frequently suffer from premature ovarian failure, despite treatment with a galactose-restricted diet. "
12/01/2000 - "The risk for premature ovarian failure (POF) in females with galactosemia can be predicted by analyzing 3 areas of risk pathology: the patient's molecular genotype for galactose-1-phosphate uridyltransferase (GALT), alternate pathways for galactose metabolism, and the patient's environment at diagnosis and during treatment. "
|4.||Ovarian Neoplasms (Ovarian Cancer)
10/15/2002 - "Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer."
02/01/2005 - "We collected epidemiological studies related to the association between milk/dairy products consumption or galactose metabolism (lactose, galactose, galactose-1-phosphate uridyltransferase, lactose/transferase) and ovarian cancer published between January 1966 and August 2003 and found 27 items from 22 independent studies. "
|1.||A 7 (A-7)
|5.||Uridine Diphosphate (UDP)
|6.||Uridine Diphosphate Glucose (UDP Glucose)
|9.||Uridine Diphosphate Galactose (UDP Galactose)
|1.||Blood Transfusion (Blood Transfusions)