Log in to save to my catalogue
Log in to save to my catalogue

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase...

| Ask | Become a Library member

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7200590

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

About this item

Full title

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Author / Creator

van Rijt, Willemijn J. , Jager, Emmalie A. , Allersma, Derk P. , Aktuğlu Zeybek, A. Çiğdem , Bhattacharya, Kaustuv , Debray, François-Guillaume , Ellaway, Carolyn J. , Gautschi, Matthias , Geraghty, Michael T. , Gil-Ortega, David , Larson, Austin A. , Moore, Francesca , Morava, Eva , Morris, Andrew A. , Oishi, Kimihiko , Schiff, Manuel , Scholl-Bürgi, Sabine , Tchan, Michel C. , Vockley, Jerry , Witters, Peter , Wortmann, Saskia B. , van Spronsen, Francjan , Van Hove, Johan L. K. and Derks, Terry G. J.

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2020-05, Vol.22 (5), p.908-916

Language

English

Formats

Articles

Publication information

Publisher

New York: Nature Publishing Group US

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Purpose
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. Case reports described successful D,L-3-hydroxybutyrate (D,L-3-HB) treatment in severely affected MADD patients, but systematic data on efficacy and safety is lacking.
Methods
A systematic literature review and an internat...

Alternative Titles

Full title

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7200590

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7200590

Other Identifiers

ISSN

1098-3600,1530-0366

E-ISSN

1530-0366

DOI

10.1038/s41436-019-0739-z

How to access this item

Log in as a Library member

Full text available

About resource

View in old catalogue

Connecting people and collections