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Literature DB >> 22692165

Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota.

Kyriakie Sarafoglou¹, Katie Banks, Jennifer Kyllo, Siobhan Pittock, William Thomas.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 2012 PMID： 22692165 DOI： 10.1001/jama.2012.5281

Source DB: PubMed Journal: JAMA ISSN： 0098-7484 Impact factor: 56.272

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Cited

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16 in total

1. Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

Authors: Patrice K Held; Stuart K Shapira; Cynthia F Hinton; Elizabeth Jones; W Harry Hannon; Jelili Ojodu
Journal: Mol Genet Metab Date: 2015-08-12 Impact factor: 4.797

Review 2. The next 150 years of congenital adrenal hyperplasia.

Authors: Adina F Turcu; Richard J Auchus
Journal: J Steroid Biochem Mol Biol Date: 2015-06-03 Impact factor: 4.292

Review 3. Adrenal steroidogenesis and congenital adrenal hyperplasia.

Authors: Adina F Turcu; Richard J Auchus
Journal: Endocrinol Metab Clin North Am Date: 2015-06 Impact factor: 4.741

4. Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.

Authors: Adina F Turcu; Juilee Rege; Robert Chomic; Jiayan Liu; Hiromi K Nishimoto; Tobias Else; Andreas G Moraitis; Ganesh S Palapattu; William E Rainey; Richard J Auchus
Journal: J Clin Endocrinol Metab Date: 2015-04-07 Impact factor: 5.958

5. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Authors: Mayara Jorgens Prado; Simone Martins de Castro; Cristiane Kopacek; Maricilda Palandi de Mello; Thaiane Rispoli; Tarciana Grandi; Cláudia Maria Dornelles da Silva; Maria Lucia Rosa Rossetti
Journal: Mol Diagn Ther Date: 2017-12 Impact factor: 4.074

Review 6. Congenital Adrenal Hyperplasia.

Authors: Selma Feldman Witchel
Journal: J Pediatr Adolesc Gynecol Date: 2017-04-24 Impact factor: 1.814

Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota.

1. Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.

Review 2. The next 150 years of congenital adrenal hyperplasia.

Review 3. Adrenal steroidogenesis and congenital adrenal hyperplasia.

4. Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency.

5. Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.

Review 6. Congenital Adrenal Hyperplasia.

Review 7. Management of congenital adrenal hyperplasia in childhood.

Review 8. Steroid biomarkers in human adrenal disease.

Review 9. Biochemical and genetic diagnosis of 21-hydroxylase deficiency.

10. Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review.