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Hydroxylase deficiency
Publication
Class
Person
Publication
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publication
Novel Mutations in the Tyrosine Hydroxylase Gene in the First Czech Patient with Tyrosine Hydroxylase Deficiency
2012 |
First Faculty of Medicine
publication
Steroid 17 alpha-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in the CYP17A1 Gene
2009 |
Second Faculty of Medicine
publication
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia
2011 |
Central Library of Charles University, Third Faculty of Medicine
publication
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
2023 |
First Faculty of Medicine
publication
Congenital adrenal hyperplasia 21-hydroxylase deficienty
2011 |
Faculty of Medicine in Hradec Králové
publication
The importance of biogenic amines metabolities determination in cerebrospinal fluid by high performance liquid chromatography in the diagnostics of pediatric neurotransmitter disorders.
2011 |
First Faculty of Medicine
publication
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype
2024 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
2021 |
First Faculty of Medicine