Results 141 to 150 of about 8,693 (164)
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Clinica Chimica Acta, 2010
Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity.To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity.Of the 18 ...
Dae-Hyun, Ko +9 more
openaire +2 more sources
Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity.To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity.Of the 18 ...
Dae-Hyun, Ko +9 more
openaire +2 more sources
American Journal of Medical Genetics Part A, 1984
AbstractA newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose‐1‐phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3‐year‐old 47,XY + 9p male control, a 30‐year‐old woman with mosaic trisomy 9p, a newborn ...
L Y, Shih +4 more
exaly +3 more sources
AbstractA newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose‐1‐phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3‐year‐old 47,XY + 9p male control, a 30‐year‐old woman with mosaic trisomy 9p, a newborn ...
L Y, Shih +4 more
exaly +3 more sources
Association of the Rs2070075 GALT gene variant with Iranian primary ovarian insufficiency patients
GenePrimary ovarian insufficiency (POI) is ovarian follicle deficiency causing menstruation interruption before 40. GALT gene's defect can lead to POI besides galactosemia. Due to the association of GALT's rs75391579 variant with POI in galactosemia and its presence in the Iranian general population, we aimed to determine its association with POI in ...
Farzaneh Adibi +5 more
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The frequencies of various mutations in GALT gene in Croatian population
2006Galactosemia is an inborn error of metabolism in which galactose breakdown is impaired. The most common form is caused by deficient galactose-1-phosphate uridyl transferase (GALT) activity and exhibits a wide spectrum of symptoms, depending on the residual enzyme activity.
Juretić, Dubravka +4 more
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
To explore the clinical features and genetic basis of a child with Galactosemia.A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child.
Zhenhua, Xie +7 more
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To explore the clinical features and genetic basis of a child with Galactosemia.A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child.
Zhenhua, Xie +7 more
openaire +1 more source
Screening for GALT gene mutations in a healthy Croatian population
2006The GALT gene codes for the galactose-1-phosphate uridyl transferase (GALT) enzyme, that catalyzes the conversion of galactose-1-phosphate to uridyl diphosphate (UDP)-galactose. Numerous mutations in the GALT gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity
Žanić-Grubišić, Tihana +4 more
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Linkage or association to the GALT gene on chromosome 9 is not demonstrable in endometriosis
Fertility and Sterility, 2002R.T. Geirsson +5 more
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