Congenital adrenal hyperplasia
PM Greece, MC India, JMTRR Mexico - 2002 - eurorad.org
Discussion CAH is an autosomal recessive condition resulting from an inborn enzyme
deficiency affecting the biosynthesis of adrenal steroid metabolism. Congenital adrenal …
deficiency affecting the biosynthesis of adrenal steroid metabolism. Congenital adrenal …
Congenital adrenal hyperplasia
D Török - Genetics of Endocrine Diseases and Syndromes, 2019 - Springer
Congenital adrenal hyperplasia (CAH) is a group of seven autosomal recessively inherited
disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients …
disorders of various enzymes participating in adrenal steroid hormone synthesis. Patients …
Inborn errors of adrenal steroidogenesis
MI New - Molecular and cellular endocrinology, 2003 - Elsevier
Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders of adrenal
steroidogenesis in which each disorder is characterized by a specific enzyme deficiency that …
steroidogenesis in which each disorder is characterized by a specific enzyme deficiency that …
Congenital adrenal hyperplasia
RC Wilson, MI New - Principles of Molecular Medicine, 2006 - Springer
Congenital adrenal hyperplasia is a family of autosomal-recessive disorders caused by
mutations that encode for enzymes involved in one of the various steps of adrenal steroid …
mutations that encode for enzymes involved in one of the various steps of adrenal steroid …
Congenital adrenal hyperplasia
MI New, LS Levine - Clinical Biochemistry, 1981 - Elsevier
1. Congenital adrenal hyperplasia (CAH) is a family of disorders produced by enzymatic
deficiencies of adrenal steroidogenesis. Oversecretion of ACTH secondary to impairment of …
deficiencies of adrenal steroidogenesis. Oversecretion of ACTH secondary to impairment of …
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
The adrenal cortex produces three principal categories of steroid hormones that regulate a
wide variety of physiologic processes from fetal to adult life. Mineralocorticoids, principally …
wide variety of physiologic processes from fetal to adult life. Mineralocorticoids, principally …
Metabolic errors of adrenal steroidogenesis
MI New, B Dupont, S Pang, MS Pollack… - Current Topics in …, 1983 - Elsevier
Publisher Summary This chapter discusses several disorders of steroid biosynthesis and
describes their hormonal and clinical manifestations as well as the current methods of …
describes their hormonal and clinical manifestations as well as the current methods of …
[引用][C] Clinical review 54: genetics, diagnosis, and management of 21-hydroxylase deficiency
WL Miller - The Journal of Clinical Endocrinology & Metabolism, 1994 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of
adrenal steroidogenesis. The natures of the steroidogenic enzymes, the genes that encode …
adrenal steroidogenesis. The natures of the steroidogenic enzymes, the genes that encode …
Congenital adrenal hyperplasia
S Nimkarn, MI New - Genetic diagnosis of endocrine disorders, 2010 - Elsevier
Publisher Summary This chapter discusses congenital adrenal hyperplasia (CAH). It is a
group of autosomal recessive disorders that impair normal steroid synthesis due to genetic …
group of autosomal recessive disorders that impair normal steroid synthesis due to genetic …
Congenital adrenal hyperplasia
MO Savage - Clinics in Endocrinology and Metabolism, 1985 - Elsevier
Congenital adrenal hyperplasia (CAB) is an inherited disorder of adrenal steroid
biosynthesis. The basic defect is the deficiency of an enzyme in the pathway of cortisol …
biosynthesis. The basic defect is the deficiency of an enzyme in the pathway of cortisol …