Duarte Variant Galactosemia | 合法醫療器材資訊網
由JLFridovich-Keil著作·1993·被引用19次—DuarteVariantGalactosemia.Review.In:GeneReviews®[Internet].Seattle(WA):UniversityofWashington,Seattle;1993–2021.
Clinical characteristics: Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population. For decades it has been unclear whether Duarte variant galactosemia results in long-term developmental problems either with or without dietary intervention. However, a recent study of 350 children ages six to 12 years reported no detectable differences in developmental outcomes tested between children with Duarte variant galactosemia and controls, or among children with Duarte variant galactosemia as a function of galactose exposure in infancy. Premature ovarian insufficiency, which is common in classic galactosemia, also has not been reported for girls or women with Duarte variant galactosemia.
Diagnosis/testing: Duarte variant ga...
Classic Galactosemia and Clinical Variant ... | 合法醫療器材資訊網
Classic Galactosemia and Clinical Variant Galactosemia | 合法醫療器材資訊網
Duarte Variant Galactosemia - GeneReviews® | 合法醫療器材資訊網
Duarte Variant Galactosemia | 合法醫療器材資訊網
Epimerase Deficiency Galactosemia | 合法醫療器材資訊網
Galactosemia | 合法醫療器材資訊網
OMIM Entry | 合法醫療器材資訊網
Table 3. [GALT Genotypes and BiochemicalClinical ... | 合法醫療器材資訊網
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