Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Background
Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the
MMACHC
gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular...
Alternative Titles
Full title
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1684431680
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1684431680
Other Identifiers
ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-015-3110-x
