428 related items for PubMed ID: 31028712
21. Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.
Hoehn T, Lukacs Z, Huckenbeck W, Torresani T, Blankenstein O, Bounnack S.
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22. Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Németh S, Riedl S, Kriegshäuser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C.
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23. Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.
Hayashi GY, Carvalho DF, de Miranda MC, Faure C, Vallejos C, Brito VN, Rodrigues AS, Madureira G, Mendonca BB, Bachega TA.
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24. Generation of monoclonal antibodies against 17α-hydroxyprogesterone for newborn screening of congenital adrenal hyperplasia.
Morejón García G, García de la Rosa I, González Reyes EC, Rubio Torres A, Quintana Guerra JM, Hernández Marín M, Pérez Mora PL, Feal Carballo S, Lafita Delfino Y, Pupo Infante M, Castells Martínez EM, Rosabal Poloshkov A, Hernández Pérez L.
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Lekarev O, Tafuri K, Lane AH, Zhu G, Nakamoto JM, Buller-Burckle AM, Wilson TA, New MI.
J Perinatol; 2013 Jan 24; 33(1):76-8. PubMed ID: 23269230
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Tieh PY, Yee JK, Hicks RA, Mao CS, Lee WN.
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27. The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.
Jiang X, Tang F, Feng Y, Li B, Jia X, Tang C, Liu S, Huang Y.
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28. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás.
Silveira EL, dos Santos EP, Bachega TA, van der Linden Nader I, Gross JL, Elnecave RH.
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29. Cortisol in dried blood screening specimens from newborns with raised 17-hydroxyprogesterone and congenital adrenal hyperplasia.
Mitchell ML, Hermos RJ.
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Seo JY, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.
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Pezzuti IL, Barra CB, Mantovani RM, Januário JN, Silva IN.
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32. Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia.
Votava F, Török D, Kovács J, Möslinger D, Baumgartner-Parzer SM, Sólyom J, Pribilincová Z, Battelino T, Lebl J, Frisch H, Waldhauser F, Middle European Society for Paediatric Endocrinology -- Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group.
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33. A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S.
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34. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry.
Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J.
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Schreiner F, Brack C, Salzgeber K, Vorhoff W, Woelfle J, Gohlke B.
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Stroek K, Ruiter A, van der Linde A, Ackermans M, Bouva MJ, Engel H, Jakobs B, Kemper EA, van den Akker ELT, van Albada ME, Bocca G, Finken MJJ, Hannema SE, Mieke Houdijk ECA, van der Kamp HJ, van Tellingen V, Paul van Trotsenburg AS, Zwaveling-Soonawala N, Bosch AM, de Jonge R, Heijboer AC, Claahsen-van der Grinten HL, Boelen A.
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37. Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.
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39. [Usefulness of molecular analysis in the differential diagnosis of congenital 21-hidroxylase deficiency detected in neonatal screening].
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