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1 879 (0,178s) •

Project

ENZYMATICAL DIAGNOSTICS OF INBORN ERRORS OF PURINE METABOLISM BY CAPILLARY ELECTROPHORESIS (PG97234)

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 1997 - 1997
    • •
  • 200 tis. Kč
    • •
  • 98 tis. Kč
    • •
  • MŠMT
Project

Plasma activities of intracellular enzymes in selected inborn errors of metabolism - suitability for diagnosis and for predicting responsiveness to therapy. (NT14159)

novel non-invasive diagnosis of enzyme deficiencies in patients with inborn errors of metabolism (IEM) and we will analyze whether plasma activity correlates with the clinicalThe projects is based on using tandem mass spec...

FG - Pediatrie

  • 2013 - 2015
    • •
  • 4 738 tis. Kč
    • •
  • 4 738 tis. Kč
    • •
  • MZ
Project

CAVH,CAVHD and CVVHD in The Treatment of Inborn Errors of Metabolism in Newborns and Infants. (IZ4182)

Some IEM lead to the cummulation of toxic products in organism.The main goal of the therapy is the elimination of this products.The most effective method is the CAVH/CAVHD using the extracorporal circulation.......

FG - Pediatrie

  • 1997 - 1999
    • •
  • 544 tis. Kč
    • •
  • 544 tis. Kč
    • •
  • MZ
Project

Optimalization of Laboratory Newborn Screening of Inherited Metabolic Disorders (NT12213)

In this project we will evaluate in a pilot phase the efficacy of newborn screening program for 20 additional inborn errors of metabolism (IEM) using a combination of different approaches. We will optimize data acquisition ...

FG - Pediatrie

  • 2011 - 2013
    • •
  • 7 056 tis. Kč
    • •
  • 7 056 tis. Kč
    • •
  • MZ
Project

Investigation of cerebrospinal fluid in diagnostics of inborn errors of neurotransmitter metabolism and mitochondrial diseases. (NS10561)

The paediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterised by abnormalities of neurotransmitter synthesis and breakdown. The diagnosis of monogenic defects of neurotransmission is almost exclusively...

FG - Pediatrie

  • 2009 - 2011
    • •
  • 4 599 tis. Kč
    • •
  • 4 599 tis. Kč
    • •
  • MZ
Project

European structure for coordination of research and diagnosis of inherited purine and pyrimidine disorders (OK 352)

Inborn errors of purine and pyrimidine metabolism represent quite new disorders.The number of the enzyme defects has increased rapidly and now totals more than twenty.Understandably,knowledge at the clinical level has been ...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 1998 - 2001
    • •
  • 1 450 tis. Kč
    • •
  • 1 400 tis. Kč
    • •
  • MŠMT
Project

Ketogenic diet as a treatment for inborn defects of ATP synthase (NU21-07-00550)

Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. ATP synthase deficiencies are primarily caused by mutations in specific assembly factor TM...

Biochemistry and molecular biology

  • 2021 - 2025
    • •
  • 9 665 tis. Kč
    • •
  • 9 665 tis. Kč
    • •
  • MZ
Project

New approaches to non-invasive diagnostics of mitochondrial diseases (NV19-07-00149)

Mitochondrial diseases are caused by insufficient function of energy provision apparatus and they belong among the most severe inborn errors of metabolism. Whole exome sequencing helped to characterise many causal mutations...

Paediatrics

  • 2019 - 2022
    • •
  • 14 521 tis. Kč
    • •
  • 14 521 tis. Kč
    • •
  • MZ
Project

Epidemiological study of the importance and effectivity of postnatal ultrasound screening examination of kidney in newborns (NR9512)

The aim is to demonstrate the effectiveness of timely diagnosis of postnatal investigation of the kidney in newborns and its importance for the diagnosis and treatment of inborn errors of the uropoetic tract.......

FQ - Veřejné zdravotnictví, sociální lékařství

  • 2007 - 2009
    • •
  • 1 782 tis. Kč
    • •
  • 1 777 tis. Kč
    • •
  • MZ
Project

New biomarkers of inherited metabolic diseases (NU20-08-00367)

Inherited metabolic diseases (IMDs) are the largest subgroup of rare diseases constituting serious health problems. They are typically caused by reduced enzyme activity or protein transporter function resulting in changes in metabolite level...

Medical laboratory technology (including laboratory samples analysis; diagnostic technologies) (Biomaterials to be 2.9 [physical characteristics of living material as related to medical implants, devices, sensors])

  • 2020 - 2023
    • •
  • 9 065 tis. Kč
    • •
  • 9 065 tis. Kč
    • •
  • MZ
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