Last Posted: Jul 01, 2021
- Second-tier testing for 21-hydroxylase deficiency in the Netherlands; a newborn screening pilot study.
Stroek Kevin et al. The Journal of clinical endocrinology and metabolism 2021
- 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)
- 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)
- 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 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)
- 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
- 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
- Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.
Oriolo C et al. Journal of endocrinological investigation 2020 Mar
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.