Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
About this item
Full title
Author / Creator
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopath...
Alternative Titles
Full title
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_01376842v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_01376842v1
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-016-9947-8
