Galactokinase Deficiency Overview
Learn About Galactokinase Deficiency
- Galactokinase deficiency
- GALK deficiency
- GALK-D
- Galactokinase deficiency galactosemia
- Galactosemia 2
- Galactosemia type 2
- Hereditary galactokinase deficiency
Maria Gozalbo-Rubio practices in Maastricht, Netherlands. Ms. Gozalbo-Rubio is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. Her top areas of expertise are Classic Galactosemia, Galactose Epimerase Deficiency, Galactokinase Deficiency, and Galactosemia.
Shigeo Kure practices in Sendai, Japan. Mr. Kure is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. His top areas of expertise are Galactokinase Deficiency, Galactose Epimerase Deficiency, Classic Galactosemia, and Galactosemia.
Ana Coelho practices in Maastricht, Netherlands. Ms. Coelho is rated as an Elite expert by MediFind in the treatment of Galactokinase Deficiency. Her top areas of expertise are 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: Children with Down syndrome (DS) face life-long struggles with verbal communication. Babble and speech sound development is delayed, and speech can be difficult to understand. Words emerge late, at 21 months on average, compared to 12 months for typical peers, and vocabulary and grammar can remain limited throughout adulthood. Because DS is diagnosed at or even before birth, these difficulties are...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center