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Genomics and Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB
Last data update: Jan 23, 2021. (Total: 38384 Documents since 2012)
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Records 1-11 (of 11 Record(s))
Query Trace: 21-hydroxylase Deficiency[original query]>>Reviews/Commentaries[Product Type]
Publication
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Held Patrice K et al. International journal of neonatal screening 2020 Aug 6(3)
Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia.
Grosse Scott D et al. International journal of neonatal screening 2020 Oct 6(4)
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Lajic Svetlana et al. International journal of neonatal screening 2020 Sep 6(3) 68
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi Abdullah M et al. Endocrine 2019 63(3) 407-421
Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Concolino Paola et al. Molecular diagnosis & therapy 2019 Jul
Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.
Breil Thomas et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Feb
Postmortem diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia: medico-legal issues.
Defraia B et al. Journal of biological regulators and homeostatic agents 2019 33(1)
Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
Podgórski Rafal et al. Acta biochimica Polonica 2018 65(1) 25-33
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.
Ginalska-Malinowska Maria et al. Developmental period medicine 2018 22(2) 197-200
Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White Perrin C et al. Current opinion in endocrinology, diabetes, and obesity 2018 Jun 25(3) 178-184
[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].
Rodríguez Amparo et al. Anales de pediatria (Barcelona, Spain : 2003) 2017 Feb
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