Galactose Epimerase DeficiencySymptoms, Doctors, Treatments, Advances & More
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.
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, Galactose Epimerase Deficiency, Galactokinase Deficiency, and Galactosemia.
Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE
Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Galactose Epimerase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.
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.