Last Posted: Dec 03, 2020
- 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
- Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.
Concolino Paola et al. Molecular diagnosis & therapy 2019 Jul
- High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Lao Qizong et al. The Journal of molecular diagnostics : JMD 2019 Jun
- A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
Gong Li-Fei et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Feb
- 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)
- [Genetic screening and prenatal diagnosis in 18 high-risk families with 21-hydroxylase deficiency].
Xia Yanjie et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Feb 36(2) 103-107
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 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
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- Fragile X Syndrome
- Gaucher Disease
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- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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