17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings

By  

Sexual Development, Vol. 5, Iss. 6, 2011-12 ,pp. : 273-276

Karger

Access to resources Recommend Favorite

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency

By  

Sexual Development, Vol. 10, Iss. 2, 2016-04 ,pp. : 66-73

Karger

Access to resources Recommend Favorite

Pyruvate dehydrogenase E3 binding protein deficiency

By Brown Ruth   Head Rosie   Brown Garry  

Human Genetics, Vol. 110, Iss. 2, 2002-02 ,pp. : 187-191

Springer Publishing Company

Access to resources Recommend Favorite

Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency

By Brown Ruth   Head Rosemary   Boubriak Ivan   Leonard James   Thomas Neil   Brown Garry  

Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 123-127

Springer Publishing Company

Access to resources Recommend Favorite

Sequential deletion of C-terminal amino acids of the E 1 α component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E 1 α 2 β 2 tetramers: implications for patients with PDH deficiency

By Seyda Agnieszka   McEachern Gillian   Haas Richard   Robinson Brian H.  

Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1041-1048

Oxford University Press

Access to resources Recommend Favorite