Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alaa AlAyed"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 22-27 (2020)
Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic a
Externí odkaz:
https://doaj.org/article/88ceaddebe454e689cd1547bdf013e7c
Autor:
Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G. Ng, Hudson H. Freeze, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100835- (2022)
Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in CAD. This gene encodes a multifunctional enzyme involved in the initial steps of de novo pyrimidine synthesis. Uridine treatment ha
Externí odkaz:
https://doaj.org/article/81a39f65abc64bd79364b041fee9b177
Publikováno v:
Journal of Biochemical and Clinical Genetics. :22-27
Background: Harel-Yoon syndrome (HAYOS) is a recently described, rare neurodevelopmental disorder characterized by developmental delay, hypotonia, appendicular hypertonia, axonal neuropathy, and other variable features, such as spasticity and optic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bcfdd734ed223ea9f9a2d268527cfb8
https://doi.org/10.24911/jbcgenetics/183-1585816398
https://doi.org/10.24911/jbcgenetics/183-1585816398