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Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency
Turcu, Adina F., Rege, Juilee, Chomic, Robert, Liu, Jiayan, Nishimoto, Hiromi K., Else, Tobias, Moraitis, Andreas G., Palapattu, Ganesh S., Rainey, William E., Auchus, Richard J.
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
Published in The journal of clinical endocrinology and metabolism (01.06.2015)
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Journal Article
Increased Activation of the Alternative “Backdoor” Pathway in Patients with 21-Hydroxylase Deficiency: Evidence from Urinary Steroid Hormone Analysis
Kamrath, Clemens, Hochberg, Ze'ev, Hartmann, Michaela F., Remer, Thomas, Wudy, Stefan A.
Published in The journal of clinical endocrinology and metabolism (01.03.2012)
Published in The journal of clinical endocrinology and metabolism (01.03.2012)
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Journal Article
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update in management of adult patients and prenatal treatment
Bachelot, Anne, Grouthier, Virginie, Courtillot, Carine, Dulon, Jérôme, Touraine, Philippe
Published in European journal of endocrinology (01.04.2017)
Published in European journal of endocrinology (01.04.2017)
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Journal Article
Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency
Tantirukdham, Nithiphut, Sahakitrungruang, Taninee, Chaisiwamongkol, Ratikorn, Pongpanich, Monnat, Srichomthong, Chalurmpon, Assawapitaksakul, Adjima, Buasong, Aayalida, Tongkobpetch, Siraprapa, Yeetong, Patra, Shotelersuk, Vorasuk
Published in The journal of clinical endocrinology and metabolism (16.06.2022)
Published in The journal of clinical endocrinology and metabolism (16.06.2022)
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Journal Article
High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing
Claps, Aldana, Kolomenski, Jorge E., Fernández, Franco, Macchiaroli, Natalia, Ingravidi, Marina L., Delea, Marisol, Fernández, Cecilia, Castro, Tania, Laiseca, Julieta, Kamenetzky, Laura, Taboas, Melisa, Dain, Liliana
Published in Scientific reports (10.07.2025)
Published in Scientific reports (10.07.2025)
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Journal Article
Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency
Ravichandran, Lavanya, Paul, Shriti, Rekha, A., Varghese, Deny, Parthiban, R, Asha, H.S., Mathai, Sarah, Simon, Anna, Danda, Sumita, Thomas, Nihal, Chapla, Aaron
Published in Indian journal of pediatrics (01.10.2025)
Published in Indian journal of pediatrics (01.10.2025)
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Journal Article
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing
Bachelot, Guillaume, Bachelot, Anne, Bonnier, Marion, Salem, Joe-Elie, Farabos, Dominique, Trabado, Severine, Dupont, Charlotte, Kamenicky, Peter, Houang, Muriel, Fiet, Jean, Le Bouc, Yves, Young, Jacques, Lamazière, Antonin
Published in Human reproduction (Oxford) (01.02.2023)
Published in Human reproduction (Oxford) (01.02.2023)
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Journal Article
Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency
Turcu, Adina F., Spencer-Segal, Joanna L., Farber, Robert H., Luo, Rosa, Grigoriadis, Dimitri E., Ramm, Carole A., Madrigal, David, Muth, Tim, O'Brien, Christopher F., Auchus, Richard J.
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
Published in The journal of clinical endocrinology and metabolism (01.03.2016)
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Journal Article
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients
Bachelot, Anne, Lapoirie, Marion, Dulon, Jérôme, Leban, Monique, Renard Penna, Raphaële, Touraine, Philippe
Published in European journal of endocrinology (01.03.2021)
Published in European journal of endocrinology (01.03.2021)
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Journal Article
Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Chiarito, Mariangela, Lattanzio, Crescenza, D’Ascanio, Vito, Capalbo, Donatella, Cavarzere, Paolo, Grandone, Anna, Aiello, Francesca, Pepe, Giorgia, Wasniewska, Malgorzata, Zoller, Thomas, Salerno, Mariacarolina, Faienza, Maria Felicia
Published in Endocrine (01.05.2024)
Published in Endocrine (01.05.2024)
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Journal Article
Increased Abdominal Adiposity in Adolescents and Young Adults With Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Kim, Mimi S., Ryabets-Lienhard, Anna, Dao-Tran, Anh, Mittelman, Steven D., Gilsanz, Vicente, Schrager, Sheree M., Geffner, Mitchell E.
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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Journal Article
Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography–mass spectrometry analysis: Reference values for neonates and infants
Kamrath, Clemens, Hartmann, Michaela F., Boettcher, Claudia, Zimmer, Klaus-Peter, Wudy, Stefan A.
Published in The Journal of steroid biochemistry and molecular biology (01.02.2016)
Published in The Journal of steroid biochemistry and molecular biology (01.02.2016)
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Journal Article
Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Ceccato, Filippo, Barbot, Mattia, Albiger, Nora, Zilio, Marialuisa, De Toni, Pietro, Luisetto, Giovanni, Zaninotto, Martina, Greggio, Nella Augusta, Boscaro, Marco, Scaroni, Carla, Camozzi, Valentina
Published in European journal of endocrinology (01.08.2016)
Published in European journal of endocrinology (01.08.2016)
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Journal Article
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia
Aldalaan, Haneen, Alsagheir, Afaf, Alghamdi, Nujud, Alhuthil, Raghad, Almslam, Maha, Al-Hamed, Mohamed H.
Published in Frontiers in endocrinology (Lausanne) (17.04.2025)
Published in Frontiers in endocrinology (Lausanne) (17.04.2025)
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Journal Article
Glucocorticoid-Induced Osteoporosis in Children with 21-Hydroxylase Deficiency
Faienza, Maria Felicia, Cavallo, Luciano, Ladisa, Filomena, Oranger, Angela, Colucci, Silvia, Brunetti, Giacomina, Ventura, Annamaria, Grano, Maria
Published in BioMed research international (01.01.2013)
Published in BioMed research international (01.01.2013)
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Journal Article
Clinical and Molecular Characterization of a Cohort of 161 Unrelated Women with Nonclassical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and 330 Family Members
Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Tardy, Véronique, Billaud, Line, Laborde, Kathleen, Coussieu, Christiane, Morel, Yves, Vaury, Christelle, Golmard, Jean-Louis, Claustre, Aurélie, Mornet, Etienne, Chakhtoura, Zeina, Mowszowicz, Irene, Bachelot, Anne, Touraine, Philippe, Kuttenn, Frédérique
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
Published in The journal of clinical endocrinology and metabolism (01.05.2009)
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Journal Article
Testicular Adrenal Rest Tumors Develop Independently of Long-Term Disease Control: A Longitudinal Analysis of 50 Adult Men With Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency
Reisch, Nicole, Rottenkolber, Marietta, Greifenstein, Anais, Krone, Nils, Schmidt, Heinrich, Reincke, Martin, Schwarz, Hans-Peter, Beuschlein, Felix
Published in The journal of clinical endocrinology and metabolism (01.11.2013)
Published in The journal of clinical endocrinology and metabolism (01.11.2013)
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Journal Article
Metabolic Profile and Body Composition in Adult Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Falhammar, Henrik, Filipsson, Helena, Holmdahl, Gundela, Janson, Per-Olof, Nordenskjöld, Agneta, Hagenfeldt, Kerstin, Thorén, Marja
Published in The journal of clinical endocrinology and metabolism (01.01.2007)
Published in The journal of clinical endocrinology and metabolism (01.01.2007)
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Journal Article
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Lao, Qizong, Jardin, Marcia Des, Jayakrishnan, Rahul, Ernst, Monique, Merke, Deborah P.
Published in Human genetics (01.12.2018)
Published in Human genetics (01.12.2018)
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Journal Article