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Projects

2 443 projects (0,167s) •

Project

The occurence of the inherited metabolic disorders in early spontaneous abortions (NR8578)

The aetiology of early spontaneous abortions is multifactorial. It can be expected that part of early pregnancy losses can be caused by enzyme dificiency. The aim of our study is to investigate metabolic defects as a potential cause of abort...

FK - Gynekologie a porodnictví

  • 2005 - 2007
    • •
  • 1 581 tis. Kč
    • •
  • 1 578 tis. Kč
    • •
  • MZ
Project

Diagnostic significance of organic acids at inherited and non-inherited metabolic disorders. (IZ2733)

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 1995 - 1997
    • •
  • 600 tis. Kč
    • •
  • 600 tis. Kč
    • •
  • MZ
Project

The influence of X-inactivation on phenotype in comon X-linked metabolic disorder, its tissue distribution and inheritance (NR8361)

in females heterozygous for common X-linked metabolic disorders. We will examine how: We will search families with X-inactivation skewing to find out if the skewing is inherited in some families. We will study the inactiva...

EB - Genetika a molekulární biologie

  • 2005 - 2007
    • •
  • 3 901 tis. Kč
    • •
  • 3 869 tis. Kč
    • •
  • MZ
Project

Application of DNA chips (microarrays) for molecular diagnosis of inherited diseases (NR8451)

The aim of the project is to improve present DNA diagnosis in the Czech Republic. We want to increase the effectiveness of mutation analysis of inherited disorders by the introduction of the APEX microarray method.......

EB - Genetika a molekulární biologie

  • 2005 - 2007
    • •
  • 3 323 tis. Kč
    • •
  • 2 628 tis. Kč
    • •
  • MZ
Project

Applications of DNA microarrays in molecular diagnostics, research and treatment of inherited metabolic disoders (1A8239)

Applications of DNA microarrays might significantly contribute to better diagnosis, research and treatment of inherited metabolic disorders.......

EB - Genetika a molekulární biologie

  • 2004 - 2006
    • •
  • 11 699 tis. Kč
    • •
  • 9 750 tis. Kč
    • •
  • MZ
Project

Diagnostics of inherited disorders of purine and pyrimidine metabolism usíng capillary electrophoresis. (IZ3439)

FG - Pediatrie

  • 1996 - 1998
    • •
  • 2 524 tis. Kč
    • •
  • 2 516 tis. Kč
    • •
  • MZ
Project

Interdisciplinary approach to molecular basis of inherited metabolic disorders (GD303/03/H065)

Interdisciplinary approach to molecular basis of inherited metabolic disorders (IMD). Genetically based metabolic disorders affect today practically all fields of medicine. Rapid recent development of IMD ...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2003 - 2007
    • •
  • 14 840 tis. Kč
    • •
  • 14 840 tis. Kč
    • •
  • GA ČR
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 protocols using IE...

FG - Pediatrie

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

Biochemical,enzymological and molecular biological study of hyperketotic states. (NE6003)

The aim of this project is to develop the system of biochemical, enzymological and molecular biological methods for the effective differential diagnostics of hyperketotic states. A group of the patients revealed in the Institude of Inherited...

FG - Pediatrie

  • 2000 - 2002
    • •
  • 2 139 tis. Kč
    • •
  • 2 139 tis. Kč
    • •
  • MZ
Project

Significance of hepcidin in the diagnosis and treatment of anemia in children (NS9951)

Annotation 1. Inherited disorders of erythropoiesis and anemia of chronic disease (ACD) can cause morbidity and decreased quality of life. Assessing the level of hepcidin, the principal regulator of iron metabolism can cont...

FG - Pediatrie

  • 2008 - 2011
    • •
  • 6 618 tis. Kč
    • •
  • 6 252 tis. Kč
    • •
  • MZ
  • 1 - 10 out of 2 443