Galactose Epimerase Deficiency Overview
Learn About Galactose Epimerase Deficiency
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Childrens Health Care Associates Inc
Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Galactose Epimerase Deficiency. His top areas of expertise are Classic Galactosemia, Multiple Sulfatase Deficiency, Cholesteryl Ester Storage Disease, and Homocystinuria.
Xinying Hong is a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Hong and is rated as an Experienced provider by MediFind in the treatment of Galactose Epimerase Deficiency. Her top areas of expertise are Krabbe Disease, Mucopolysaccharidoses (MPS), Cholesteryl Ester Storage Disease, and Mucolipidosis Type 4.
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 (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...