Congenital Adrenal Hyperplasia
Last Posted: Dec 01, 2020
- CAH Newborn Screening in India: Challenges and Opportunities.
Dabas Aashima et al. International journal of neonatal screening 2020 Aug 6(3)
- Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme.
Lai Fei et al. International journal of neonatal screening 2020 Aug 6(3)
- Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Zetterström Rolf H et al. International journal of neonatal screening 2020 Aug 6(3)
- 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
- Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Held Patrice K et al. International journal of neonatal screening 2020 Sep 6(3) 67
- Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
- Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.
Pode-Shakked Naomi et al. The Journal of clinical endocrinology and metabolism 2019 104(8) 3172-3180
- Outcome of Newborn Screening for Congenital Adrenal Hyperplasia at Two Time Points.
Eshragh Nazaneen et al. Hormone research in paediatrics 2020 Jul 1-9
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer Sabina et al. European journal of human genetics : EJHG 2020 Jul
- Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.
David Jan et al. Minerva pediatrica 2020 Jun
- Storage stability of five steroids and in dried blood spots for newborn screening and retrospective diagnosis of congenital adrenal hyperplasia.
Grecsó Nóra et al. PloS one 2020 15(5) e0233724
- Endocrine components of newborn screening.
Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772
- 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
- Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations.
Elmougy F et al. Journal of endocrinological investigation 2020 May
- Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence.
Miranda Mirela Costa De et al. Journal of the Endocrine Society 2020 Feb 4(2) bvz013
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