Epimerase Deficiency Galactosemia | 合法醫療器材資訊網
2011年1月25日—Infantswithgeneralizedepimerasedeficiencygalactosemiadevelopclinicalfindingsonaregularmilkdiet(whichcontainslactose, ...
Synonyms: Galactosemia Type III, GALE Deficiency, UDP-Galactose-4-Epimerase Deficiency
Judith Fridovich-Keil, PhD, Lora Bean, PhD, Miao He, PhD, and Richard Schroer, MD.
Author Information and Affiliations[1]Initial Posting: January 25, 2011; Last Update: March 4, 2021.
Estimated reading time: 29 minutes
Summary Clinical characteristics.Epimerase deficiency galactosemia (GALE deficiency galactosemia) is generally considered a continuum comprising several forms:
Generalized. Enzyme activity is profoundly decreased in all tissues tested.
Peripheral. Enzyme activity is deficient in red blood cells (RBC) and circulating white blood cells, but...
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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