منابع مشابه
Duarte galactosemia: how sweet is it?
The pathologic consequences of various inborn errors of metabolism in the conversion of dietary and endogenously produced galactose through the Leloir pathway have recently been reviewed (1, 2 ). In this issue of the Journal, Ficicioglu and colleagues (3 ) report that children (ages 1– 6 years) who have Duarte galactosemia (DG), a variant form of galactosemia, and are on a standard diet have ty...
متن کاملCoexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia
Galactosemia is an autosomal recessive disorder caused by deficient or absent activities of one of the three enzymes involved in the galactose metabolic pathway. The predominant form is classic type galactosemia caused by severe reduction or absence of the galactose1-phosphate uridyl transferase (GALT) enzyme. Coexistence of extrahepatic biliary atresia (EHBA) with Duarte 1 and 2 variants of ga...
متن کاملMonitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
BACKGROUND Duarte galactosemia (DG) is frequently detected in newborn-screening programs. DG patients do not manifest the symptoms of classic galactosemia, but whether they require dietary galactose restriction is controversial. We sought to assess the relationships of selected galactose metabolites (plasma galactose, plasma galactitol, erythrocyte (RBC) galactitol, RBC galactonate, and urine g...
متن کاملDuarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
UNLABELLED Newborn screening for galactosemia has shown a high prevalence of partial galactose uridyl transferase deficiencies such as Duarte (DG) galactosemia. STUDY OBJECTIVE To determine whether (a) there is any clinical impact of DG galactosemia on development (b) there is a relationship between outcome and biochemical parameters in patients who receive no treatment. STUDY POPULATION Tw...
متن کاملinterpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
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ژورنال
عنوان ژورنال: Fertility and Sterility
سال: 2011
ISSN: 0015-0282
DOI: 10.1016/j.fertnstert.2011.05.088