Natalie Friedova

ORCID: 0000-0003-3482-0878
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About
Contact & Profiles
Research Areas
  • Trace Elements in Health
  • Heavy Metal Exposure and Toxicity
  • Bone health and treatments
  • Bone Metabolism and Diseases
  • Amino Acid Enzymes and Metabolism
  • Biomedical Research and Pathophysiology
  • Bone and Dental Protein Studies
  • Digestive system and related health

Charles University
2020-2025

Thomayer University Hospital
2025

General University Hospital in Prague
2021

Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is a rare condition defined by the occurrence of progressive diffuse hyperostosis cranial bones and abnormal metaphyseal widening tubular bones. ANKH known to be only gene associated with AD-CMD. We present case toddler boy macrodolichocephaly, asymmetry skull, wide bulging forehead, gingival hypertrophy irregular teeth. Physical examination, X-ray DNA analysis were performed. All exons flanking intron regions amplified PCR directly...

10.1136/bcr-2024-260530 article EN BMJ Case Reports 2025-02-01

Abstract Osmium tetroxide is a strong oxidizing agent used in electron microscopy. Eye exposure may cause severe burns, and after inhalation or ingestion damage to the respiratory gastrointestinal tract occurs. Exposure osmium its compounds extremely rare. We present case of 32‐year‐old female stained by 9 mL 2% acetone during an accident laboratory, with rare dermal ocular findings. Due lack data toxicological databases absence antidote, therapy was symptomatic. detected serum 19 hours...

10.1111/bcpt.13450 article EN Basic & Clinical Pharmacology & Toxicology 2020-06-11
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