Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglu...
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
About this item
Full title
Author / Creator
Oláhová, Monika , Thompson, Kyle , Hardy, Steven A. , Barbosa, Inês A. , Besse, Arnaud , Anagnostou, Maria-Eleni , White, Kathryn , Davey, Tracey , Simpson, Michael A. , Champion, Michael , Enns, Greg , Schelley, Susan , Lightowlers, Robert N. , Chrzanowska-Lightowlers, Zofia M. A. , McFarland, Robert , Deshpande, Charu , Bonnen, Penelope E. and Taylor, Robert W.
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have greatly enhanced the diagnosis of patients with mitochondrial disease, particularly where a mitocho...
Alternative Titles
Full title
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
Authors, Artists and Contributors
Author / Creator
Thompson, Kyle
Hardy, Steven A.
Barbosa, Inês A.
Besse, Arnaud
Anagnostou, Maria-Eleni
White, Kathryn
Davey, Tracey
Simpson, Michael A.
Champion, Michael
Enns, Greg
Schelley, Susan
Lightowlers, Robert N.
Chrzanowska-Lightowlers, Zofia M. A.
McFarland, Robert
Deshpande, Charu
Bonnen, Penelope E.
Taylor, Robert W.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5203855
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5203855
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-016-9977-2
