Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1573-2665

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria ; day:30 ; month:9 ; year:2016 ; pages:1-10
Journal of inherited metabolic disease ; (30.9.2016), 1-10

Creator: Oláhová, Monika

Contributor: 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.
SpringerLink (Online service)

DOI: 10.1007/s10545-016-9977-2

URN: urn:nbn:de:1111-201610317151

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:53 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

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.
Taylor, Robert W.
SpringerLink (Online service)

Other Objects (12)

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Correction to: Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China

Early-Onset Osteoporosis

Variants of early-onset restrictive eating disturbances in middle childhood

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Maternal plasma proteome profiling of biomarkers and pathogenic mechanisms of early-onset and late-onset preeclampsia

A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer’s disease

Missense Variants in PAX4 Are Associated with Early-Onset Diabetes in Chinese

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects

Related objects

Reset password