Concepedia

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

Felix Votava, Dana Novotná, P Kračmar, Hana Vinohradská, E. SťahlováHrabincová, Zuzana Vrzalová, David Neumann, Jana Malíková, Jan Lebl, Dietrich Matern

European Journal of Pediatrics · 2012 · 15 citations · 18 references

DOI

Concepts

References

18

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

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Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress

Susan E. Waisbren · JAMA · 2003 · 360 citations

Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry

Jean M. Lacey, Carla Minutti, Mark J Magera et al. · Clinical Chemistry · 2004 · 212 citations · Full text

Screening for Congenital Adrenal Hyperplasia: Adjustment of 17-Hydroxyprogesterone Cut-Off Values to Both Age and Birth Weight Markedly Improves the Predictive Value

Bernhard Olgemöller, Adelbert A. Roscher, Bernhard Liebl et al. · The Journal of Clinical Endocrinology & Metabolism · 2003 · 125 citations · Full text

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