Related references
Note: Only part of the references are listed.tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
Simon Edvardson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
Daniela A. Braun et al.
NATURE GENETICS (2017)
Novel monogenic causes of Galloway-Mowat syndrome
Ellen F. Carney
NATURE REVIEWS NEPHROLOGY (2017)
Renal manifestations of primary mitochondrial disorders
Josef Finsterer et al.
BIOMEDICAL REPORTS (2017)
Cross Kingdom Functional Conservation of the Core Universally Conserved Threonylcarbamoyladenosine tRNA Synthesis Enzymes
Patrick C. Thiaville et al.
EUKARYOTIC CELL (2014)
A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants
Tanis R. Fenton et al.
BMC PEDIATRICS (2013)
Regulation of magnesium balance: lessons learned from human genetic disease
Jeroen H. F. de Baaij et al.
CLINICAL KIDNEY JOURNAL (2012)
Renal pathology in children with mitochondrial diseases
E Martín-Hernández et al.
PEDIATRIC NEPHROLOGY (2005)
Should the Schwartz formula for estimation of GFR be replaced by cystatin C formula?
G Filler et al.
PEDIATRIC NEPHROLOGY (2003)
Share Paper
