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10 509 (0,181s) •

Project

Screening of inborn defects in the first trimestr of gravidity (IZ4332)

The goal of the project is the formation of conditions necessary for the introduction of the first trimester prenatal screening of inborn defect,which has many advantages for the pregnant eoman and for the physician.......

FK - Gynekologie a porodnictví

  • 1997 - 1999
    • •
  • 1 306 tis. Kč
    • •
  • 1 298 tis. Kč
    • •
  • MZ
Project

Inborn skeletal disorders caused by mutations in fibroblast growth factor receptors/FGFR/ (NM25)

Mutations of the genes coding for fibroblast growth factor receptors(FGFR)and their phenotypic expression will be studied in patients with selected inborn skeletal disorders in order to improve diagnostics and classification of these syndrom...

EB - Genetika a molekulární biologie

  • 1998 - 2000
    • •
  • 2 185 tis. Kč
    • •
  • 2 185 tis. Kč
    • •
  • MZ
Project

Deformation mechanisms of geomaterials (IAA2111301)

. This grant project can be characterised by the key-words: inborn and induced structure and the origin and destruction of structural bonding will be studied.The research......

JM - Inženýrské stavitelství

  • 2003 - 2005
    • •
  • 1 303 tis. Kč
    • •
  • 747 tis. Kč
    • •
  • AV ČR
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...

FG - Pediatrie

  • 2013 - 2015
    • •
  • 4 738 tis. Kč
    • •
  • 4 738 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 unable to keep pac...

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 TMEM70, followed by ...

Biochemistry and molecular biology

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

Osteodistraction in Craniofacial Surgery (NK6546)

Acquainting with the method of osteodisraction especially in the area of upper jawn. Next elaboration of osteodistraction of the lower jawn. Apply the method an the area of the upper jawn and forehead.......

FF - ORL, oftalmologie, stomatologie

  • 2001 - 2003
    • •
  • 774 tis. Kč
    • •
  • 758 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

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
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