Galactose Epimerase DeficiencySymptoms, Doctors, Treatments, Advances & More
Galactose Epimerase Deficiency Overview
Learn About Galactose Epimerase Deficiency
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Shigeo Kure practices practicing medicine in Sendai, Japan. Mr. Kure is rated as an Elite expert by MediFind in the treatment of Galactose Epimerase Deficiency. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Galactokinase Deficiency, Galactose Epimerase Deficiency, Classic Galactosemia, and Galactosemia.
Maria Gozalbo-Rubio practices practicing medicine in Maastricht, Netherlands. Ms. Gozalbo-Rubio is rated as an Elite expert by MediFind in the treatment of Galactose Epimerase Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Classic Galactosemia, Galactokinase Deficiency, Galactose Epimerase Deficiency, and Galactosemia.
Ana Coelho practices practicing medicine in Maastricht, Netherlands. Ms. Coelho is rated as an Elite expert by MediFind in the treatment of Galactose Epimerase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Classic Galactosemia, Galactosemia, Galactose Epimerase Deficiency, and Galactokinase Deficiency.
Background: Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation.
Summary: Newborn screening and a galactose-free diet have improved early outcomes in galactosemia, but long-term issues such as primary ovarian insufficiency (POI) remain significant. This study aims to clarify clinical, hormonal, developmental, and fertility-related factors in affected girls through a large multicenter Italian cohort.