Petr Chrastina

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 13 publications

The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap.

The impact of vitamin B12 deficiency on urinary profile of de novo purine synthesis intermediates: consequences of the methylfolate trap.

Journal: Nucleosides, nucleotides & nucleic acids

Published: June 25, 2026

Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.

Pilot Newborn Screening for Vitamin B12 Deficiency in the Czech Republic: Results and Detailed Studies on Identified Babies and Their Mothers.

Journal: International journal of neonatal screening

Published: February 06, 2026

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Beyond TREC: Pivotal role of tandem TREC/KREC assay in Czech SCID NBS pilot programme.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: February 25, 2025

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases.

Journal: Journal of inherited metabolic disease

Published: February 07, 2022

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

Journal: Drug metabolism and personalized therapy

Published: November 19, 2021

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Journal: Nutrients

Published: July 30, 2021

Extremely low birthweight neonates with phenylketonuria require special dietary management.

Extremely low birthweight neonates with phenylketonuria require special dietary management.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: April 05, 2021

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Journal: Neuro endocrinology letters

Published: August 28, 2020

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Journal: Journal of inherited metabolic disease

Published: February 12, 2019

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

Journal: Central European journal of public health

Published: June 28, 2018

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates.

Journal: European journal of pediatrics

Published: May 03, 2018

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

Journal: Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme

Published: February 28, 2015

Showing 1-12 of 13

Last Updated: 09/26/2026