Classic Galactosemia and Clinical Variant Galactosemia | 合法醫療器材資訊網
由GTBerry著作·1993·被引用81次—ThisGeneReviewfocuseson:Classicgalactosemia,whichcanresultinlife-threateningcomplicationsincludingfeedingproblems,failureto ...
Clinical characteristics: The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on:
Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysar...
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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