Pages that link to "Q48441609"
Jump to navigation
Jump to search
The following pages link to Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years (Q48441609):
Displaying 50 items.
- Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency (Q24291560) (← links)
- Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc (Q24305963) (← links)
- The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (Q24613957) (← links)
- Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta (Q24628732) (← links)
- Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia (Q24673327) (← links)
- Congenital lipoid adrenal hyperplasia (Q26997366) (← links)
- The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia (Q28117336) (← links)
- Intramitochondrial cholesterol transfer (Q28138474) (← links)
- Steroidogenic Acute Regulatory Protein (Q29010666) (← links)
- Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR. (Q33694944) (← links)
- A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia (Q33760629) (← links)
- Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency. (Q33823436) (← links)
- Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. (Q34049839) (← links)
- Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). (Q34086693) (← links)
- Steroidogenic acute regulatory protein (StAR) and the intramitochondrial translocation of cholesterol (Q34101238) (← links)
- Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia (Q34214564) (← links)
- Early steps in steroidogenesis: intracellular cholesterol trafficking (Q34221799) (← links)
- Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia (Q34617152) (← links)
- Androgen biosynthesis from cholesterol to DHEA. (Q34648316) (← links)
- Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein (Q34666999) (← links)
- Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita (Q35207807) (← links)
- Steroid enzyme defects leading to male pseudohermaphroditism (Q35548886) (← links)
- Adrenal androgens and androgen precursors-definition, synthesis, regulation and physiologic actions (Q35624417) (← links)
- A case of lipoid congenital adrenal hyperplasia presenting with cholestasis (Q36244752) (← links)
- Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene (Q36244786) (← links)
- Role of the steroidogenic acute regulatory protein in health and disease (Q36447481) (← links)
- Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (Q37003273) (← links)
- Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene (Q37365129) (← links)
- Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation (Q37424676) (← links)
- Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency (Q37732798) (← links)
- Placental steroid hormones (Q38001008) (← links)
- Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization (Q38238162) (← links)
- Molecular and clinical advances in congenital adrenal hyperplasia (Q39659634) (← links)
- Genetic disorders of steroid hormone synthesis and metabolism (Q40422416) (← links)
- Molecular determinants of sexual differentiation (Q41205937) (← links)
- Pathophysiology, genetics, and treatment of hyperandrogenism (Q41455260) (← links)
- New developments in congenital lipoid adrenal hyperplasia and steroidogenic acute regulatory protein (Q41455265) (← links)
- The steroidogenic acute regulatory (StAR) protein two years later (Q41533099) (← links)
- Binding of steroidogenic acute regulatory protein to synthetic membranes suggests an active molten globule (Q43560349) (← links)
- Early steps in androgen biosynthesis: from cholesterol to DHEA. (Q44104324) (← links)
- Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation (Q45235711) (← links)
- Evidence that StAR and MLN64 act on the outer mitochondrial membrane as molten globules (Q46617596) (← links)
- Age-related changes in adrenal size during the first year of life in normal newborns, infants and patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: comparison of ultrasound and hormonal parameters (Q47177448) (← links)
- Lipoid congenital adrenal hyperplasia: pathologic features of the testis (Q51625686) (← links)
- Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation (Q58605317) (← links)
- Congenital Adrenal Hyperplasias (Q67833865) (← links)
- The role of the steroidogenic acute regulatory protein in steroidogenesis (Q73065721) (← links)
- Sexual steroids in prepubertal bone maturation (Q73146540) (← links)
- Spatio-Temporal Expression Patterns of Steroidogenic Acute Regulatory Protein (StAR) During Follicular Development in the Rat Ovary* (Q74013282) (← links)
- Steroidogenic acute regulatory protein (Q78017208) (← links)