Article
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Hormones (Athens, Greece) - 1 Sept 2021
Lafcı Naz Guleray, Colak Fatma Kurt, Sahin Gulseren, Sakar Merve, Çetinkaya Semra, Savas-Erdeve Senay
Abstract excerpt
BACKGROUND: Transaldolase (TALDO) deficiency (OMIM #606003) is a rare autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast phenotypic spectrum ranging from neonatal liver failure to slowly progressive liver cirrhosis and is characterized by intrauterine growth restriction, hepatosplenomegaly, bicytopenia, nephrolithiasis, and congenital heart disease. METHODS AND RESULTS: We...
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