Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Arg/Orn ratio"'
Autor:
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100735- (2021)
Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood.
Externí odkaz:
https://doaj.org/article/3bd6b55f70134d4d897f63c7b81b6687
Autor:
Rossana Sanchez Russo, Charles M. Rowland, Chung Lee, Pranoot Tanpaiboon, Stephen D. Cederbaum, Inderneel Sahai, Denise Salazar, Derek Wong, Yue Huang, Felicitas Lacbawan, Rajesh Sharma, Juanita Neira, Susan Sklower Brooks, Annette Feigenbaum, Kelly E. Jackson
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100735-(2021)
Arginase deficiency is a rare inborn error of metabolism that interrupts the final step of the urea cycle. Untreated individuals often present with episodic hyperammonemia, developmental delay, cognitive impairment, and spasticity in early childhood.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.