Congenital adrenal hyperplasia

CM Trapp, LS Levine, SE Oberfield - Pediatric Endocrinology: A Practical …, 2018 - Springer
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders in which
there is a deficiency of one of the enzymes necessary for cortisol synthesis. An abnormality …

Loss Of Protein Stability And Function Caused By POR-Rs17853284 Linked To Lower Testosterone Levels

MNR Velazquez, M Noebauer, AV Pandey - 2022 - preprints.org
Cytochrome P450 oxidoreductase (POR) is the redox partner of steroid and drug-
metabolizing cytochromes P450 located in the endoplasmic reticulum. Mutations in POR …

[PDF][PDF] Comparative analysis of legume NADPH-cytochrome

P Istiandari - 2022 - ir.library.osaka-u.ac.jp
Cytochrome P450 monooxygenases (CYPs) are the most important enzymes responsible for
the structural diversity of triterpenoids (Xu et al. 2004). CYPs are classified based on their …

Development of new imaging and biochemical markers of diabetic complications: Early neurometabolic alterations in obesity and type 2 diabetes mellitus

BAC Ferreira - 2022 - estudogeral.uc.pt
Introduction and objectives: Type 2 diabetes mellitus (T2DM) is associated with a great risk
of developing neurological comorbidities, which are, at least partly, responsible for the …

The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) III) Biochemical and genetic markers in the 46, XYIV) Proposals …

ML Granada, L Audí - Advances in Laboratory Medicine/Avances en …, 2021 - degruyter.com
Objectives 46, XY differences/disorders of sex development (DSD) involve an abnormal
gonadal and/or genital (external and/or internal) development caused by lack or incomplete …

[PDF][PDF] provides insight into co-expressing genes from legumes for heterologous production of triterpenoids in yeast.

P Istiandari, S Yasumoto, P Srisawat, K Tamura… - researchgate.net
Triterpenoids are one of the most diverse groups of plantspecialized metabolites, with more
than 20,000 compounds known to exist in nature (Oldfield and Lin, 2012). One of the …

[PDF][PDF] Pramesti Istiandari1, Shuhei Yasumoto1, 2, Pisanee Srisawat1, 3, Keita Tamura1, Ayaka Chikugo1, Hideyuki Suzuki4, Hikaru Seki1, 2, Ery Odette Fukushima1 …

M Dastmalchi, T Moses, L Busta, T Muranaka… - academia.edu
Triterpenoids are plant specialized metabolites with various pharmacological activities. They
are widely distributed in higher plants, such as legumes. Because of their low accumulation …

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX …

C Wang, Q Tian - Frontiers in Endocrinology, 2023 - frontiersin.org
Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal
hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and …

Genetic Heterogeneity in Adrenal Insufficiency

R Pivonello, C Simeoli, R Ferrigno… - Polyendocrine Disorders …, 2021 - Springer
Genetic forms of primary adrenal insufficiency (AI) present clinical heterogeneity, variable
modes of inheritance, and association with several clinical pictures. Congenital adrenal …

[PDF][PDF] Loss of protein stability and function caused by POR-variation P228L.

MNR Velazquez, M Noebauer, AV Pandey - researchgate.net
Cytochrome P450 oxidoreductase (POR) is the redox partner of steroid and
drugmetabolizing cytochromes P450 located in the endoplasmic reticulum. Mutations in …