Identification of human D lactate dehydrogenase deficiency
Identification of human D lactate dehydrogenase deficiency
About this item
Full title
Author / Creator
Monroe, Glen R. , van Eerde, Albertien M. , Tessadori, Federico , Duran, Karen J. , Savelberg, Sanne M. C. , van Alfen, Johanna C. , Terhal, Paulien A. , van der Crabben, Saskia N. , Lichtenbelt, Klaske D. , Fuchs, Sabine A. , Gerrits, Johan , van Roosmalen, Markus J. , van Gassen, Koen L. , van Aalderen, Mirjam , Koot, Bart G. , Oostendorp, Marlies , Duran, Marinus , Visser, Gepke , de Koning, Tom J. , Calì, Francesco , Bosco, Paolo , Geleijns, Karin , de Sain-van der Velden, Monique G. M. , Knoers, Nine V. , Bakkers, Jeroen , Verhoeven-Duif, Nanda M. , van Haaften, Gijs and Jans, Judith J.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in
LDHD
, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate u...
Alternative Titles
Full title
Identification of human D lactate dehydrogenase deficiency
Authors, Artists and Contributors
Author / Creator
van Eerde, Albertien M.
Tessadori, Federico
Duran, Karen J.
Savelberg, Sanne M. C.
van Alfen, Johanna C.
Terhal, Paulien A.
van der Crabben, Saskia N.
Lichtenbelt, Klaske D.
Fuchs, Sabine A.
Gerrits, Johan
van Roosmalen, Markus J.
van Gassen, Koen L.
van Aalderen, Mirjam
Koot, Bart G.
Oostendorp, Marlies
Duran, Marinus
Visser, Gepke
de Koning, Tom J.
Calì, Francesco
Bosco, Paolo
Geleijns, Karin
de Sain-van der Velden, Monique G. M.
Knoers, Nine V.
Bakkers, Jeroen
Verhoeven-Duif, Nanda M.
van Haaften, Gijs
Jans, Judith J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0dc2cc8f517f49eaa57ea85a84853e50
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0dc2cc8f517f49eaa57ea85a84853e50
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-019-09458-6
