Results 281 to 290 of about 75,903 (304)

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Brain, 2010
Michèl A A P Willemsen, Marcel M Verbeek, Alec Aeby   +2 more
exaly  

21-Hydroxylase Deficiency

2008
openaire   +1 more source

The Genetics of 21-Hydroxylase Deficiency

The Endocrinologist, 1994
Javier E. Aisenberg, Phyllis W. Speiser
openaire   +1 more source

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

Genetics in Medicine, 2014
Patricia L Splett, Jerry Vockley
exaly  

New, recurrent, and prevalent mutations: Clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency

Journal of Steroid Biochemistry and Molecular Biology, 2015
Yang Jiao, Weiqing Wang, Xiaoying Li
exaly  

Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency

Gynecological Endocrinology, 2012
Yong Mong Bee
exaly  

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

Journal of Clinical Endocrinology and Metabolism, 2003
Erik A Sistermans
exaly  

Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency

Gynecological Endocrinology, 2009
Qinjie Tian
exaly  

Genetic and Hormonal Characterization of Cryptic 21-Hydroxylase Deficiency*

Journal of Clinical Endocrinology and Metabolism, 1981
Carla Scaroni
exaly  

CLOSE GENETIC LINKAGE BETWEEN HLA AND CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)

Lancet, The, 1977
exaly