Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA...
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
About this item
Full title
Author / Creator
Stadler, Sonja C. , Polanetz, Roman , Maier, Esther M. , Heidenreich, Sylvia C. , Niederer, Birgit , Mayerhofer, Peter U. , Lagler, Florian , Koch, Hans-Georg , Santer, René , Fletcher, Janice M. , Ranieri, Enzo , Das, Anibh M. , Spiekerkötter, Ute , Schwab, Karl O. , Pötzsch, Simone , Marquardt, Iris , Hennermann, Julia B. , Knerr, Ina , Mercimek-Mahmutoglu, Saadet , Kohlschmidt, Nicolai , Liebl, Bernhard , Fingerhut, Ralph , Olgemöller, Bernhard , Muntau, Ania C. , Roscher, Adelbert A. and Röschinger, Wulf
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
Formats
Publication information
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Subjects
More information
Scope and Contents
Contents
New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary throughout the United States, Australia, and Europe due to limited data on outcome and...
Alternative Titles
Full title
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Authors, Artists and Contributors
Author / Creator
Polanetz, Roman
Maier, Esther M.
Heidenreich, Sylvia C.
Niederer, Birgit
Mayerhofer, Peter U.
Lagler, Florian
Koch, Hans-Georg
Santer, René
Fletcher, Janice M.
Ranieri, Enzo
Das, Anibh M.
Spiekerkötter, Ute
Schwab, Karl O.
Pötzsch, Simone
Marquardt, Iris
Hennermann, Julia B.
Knerr, Ina
Mercimek-Mahmutoglu, Saadet
Kohlschmidt, Nicolai
Liebl, Bernhard
Fingerhut, Ralph
Olgemöller, Bernhard
Muntau, Ania C.
Roscher, Adelbert A.
Röschinger, Wulf
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68761690
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68761690
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.20349
