Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kashief Khan"'
Autor:
Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101078- (2024)
Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes.A 19-week-old male in
Externí odkaz:
https://doaj.org/article/9892e44912304e90a1a247108609ce21
Autor:
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100629- (2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gen
Externí odkaz:
https://doaj.org/article/62da609519d049c487e202f93647ff04
Publikováno v:
Journal of clinical pathology. 75(1)
AimsMitochondrial diseases form one of the largest groups of inborn errors of metabolism. The birth prevalence is approximately 1/5000 in well-studied populations, but little has been reported from Sub-Saharan Africa. The aim of this study was to des
Autor:
Carl Fratter, Surita Meldau, Gillian Riordan, Kate Sergeant, Kashief Khan, Louisa Ntombenhle Bhengu, Peter Berman
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100629-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100629-(2020)
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration. Although the PDHA1 ge
Publikováno v:
Journal of Clinical Pathology; Jan2022, Vol. 75 Issue 1, p34-38, 6p