Duarte Variant Galactosemia - GeneReviews® | 合法醫療器材資訊網
由JLFridovich-Keil著作·2020·被引用19次—InfantswithDuartevariantgalactosemiawhoreceivebreastmilkorahighgalactose-containingformula(dairymilk-basedformula)aretypically ...
Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.
Molecular PathogenesisThe mechanism of pathogenesis of the GALT D2 allele[1] was a point of some confusion in the past (reviewed in Carney et al [2009][2]), likely reflecting the complex nature of the allele and the fact that the linked 4-bp promoter deletion[3] (c.-119_-116delGTCA) was not initially recognized. The consensus is now that this 4-bp promoter deletion is actually the causal variant, leading to slight impairment of expression of what is a fully functional GALT protein.
The mechanism of pathogenesis of different GALT pathogenic variants as a cause of classic / clinical variant galactosemia is described in Classic Galactosemia and Clinical Variant Galactosemia[4].
Gene structure. See Classic Galactosemia ...
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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