Pediatric Endocrinology Diabetes and Metabolism
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Pediatric Endocrinology Diabetes and Metabolism
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Artykuł oryginalny

Doświadczenia własne i wnioski z przesiewu noworodków w kierunku wrodzonego przerostu nadnerczy w Polsce: obserwacje jednego ośrodka i przegląd literatury

Zuzanna Gawlik
1, 2
,
Maria Ginalska-Malinowska
3
,
Anna Siejka
4
,
Jakub Gawlik
5
,
Jerzy Starzyk
1, 2
,
Dominika Małgorzata Januś
1, 2

  1. Department of Pediatric and Adolescent Endocrinology, University Children Hospital in Krakow, Poland
  2. Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland
  3. Department of Screening and Metabolic Diagnostics, Institute of Mother and Child, Warsaw, Poland
  4. Clinical Biochemistry Department, The Children’s Memorial Health Institute, Warsaw, Poland
  5. Department of Dermatology, Specialist Hospital, Jaslo, Poland
DOI: https://doi.org/10.5114/pedm.2026.159589
Data publikacji online: 2026/03/26
Plik artykułu:
- 0425_Lessons learned.pdf  [1.00 MB]
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Metryki PlumX:
 
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33. Liu SY, Lee CT, Tung YC, et al. Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening. J Formos Med Assoc 2018; 117: 126–131. doi: 10.1016/j.jfma.2017.03.008.
34. Sanz Fernández M, Mora Sitja M, Carrascón González-Pinto L, et al. Assessment of the degree of clinical suspicion of 21-hydroxylase deficiency prior to the newborn screening result. Horm Metab Res 2023; 55: 528–535. doi: 10.1055/a-2111-6571.
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36. Seneviratne SN, Sandakelum U, Jayawardena CH, et al. Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka. J Pediatr Endocrinol Metab 2021; 34: 1131–1137. doi: 10.1515/jpem-2020-0681.
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