Total number of publications: 25
2019
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EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC
Central European journal of public health, year: 2019, volume: 27, edition: 2, DOI
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Short stature in a boy with atypical progeria syndrome due to LMNA c.433G > A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, year: 2019, volume: 32, edition: 7, DOI
2018
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Smith-Lemli-Opitz syndrom, dva případy našich pacientů
Year: 2018, type: Conference abstract
2017
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Hypofosfatázie-kazuistika
Year: 2017, type: Conference abstract
2016
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Hypofosfatázie - vzácné onemocnění s možností nové terapie
Pediatria, year: 2016, volume: 11, edition: 5
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Může být urychlení růstu příčinou malé finální výšky?
Paediatric endocrinology news, year: 2016, volume: 3, edition: 1
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Tyreotoxická periodická paralýza
Pediatrie pro praxi, year: 2016, volume: 17, edition: 6
2013
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Bone Geometry and Volumetric Bone Density at the Radius in Patients with Isolated SHOX Deficiency
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, year: 2013, volume: 121, edition: 2, DOI
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Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, year: 2013, volume: 98, edition: 7, DOI
2012
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Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance
European Journal of Paediatrics, year: 2012, volume: 171, edition: 6, DOI