Erratum to: A Case of Classical Galactosemia: Identification and Characterization of 3 Distinct Mutations in Galactose-1-Phosphate Uridyl Transferase (GALT) Gene in a Single Family
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چکیده
منابع مشابه
A 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 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 کاملThe 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 کاملBiochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Classical Galactosemia is an autosomal recessive disorder of galactose metabolism caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Till date, no reports are available on clinical and molecular spectrum of galactosemia from Indian population. The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patient...
متن کاملa frame semantic approach to the study of translating cultural scripts in salingers franny and zooey
the frame semantic theory is a nascent approach in the area of translation studies which goes beyond the linguistic barriers and helps us to incorporate cognitive and cultural factors to the study of translation. based on rojos analytical model (2002b), which centered in the frames or knowledge structures activated in the text, the present research explores the various translation problems that...
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ژورنال
عنوان ژورنال: The Indian Journal of Pediatrics
سال: 2011
ISSN: 0019-5456,0973-7693
DOI: 10.1007/s12098-011-0498-6