- Home
- Publications
- Publication Search
- Publication Details
Title
Biochemical diagnosis of mitochondrial disorders
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 34, Issue 2, Pages 283-292
Publisher
Springer Nature
Online
2010-05-03
DOI
10.1007/s10545-010-9081-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The clinical spectrum of mitochondrial genetic disorders
- (2013) A. Fryer et al. CLINICAL MEDICINE
- Succinyl-CoA Synthetase Is a Phosphate Target for the Activation of Mitochondrial Metabolism
- (2009) Darci Phillips et al. BIOCHEMISTRY
- Mitochondrial proteome evolution and genetic disease
- (2009) Martijn A. Huynen et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- EFNS guidelines on the molecular diagnosis of mitochondrial disorders
- (2009) J. Finsterer et al. EUROPEAN JOURNAL OF NEUROLOGY
- A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
- (2009) Elsebet Ostergaard et al. EUROPEAN JOURNAL OF PEDIATRICS
- Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype
- (2009) J. M. Cameron et al. HUMAN GENETICS
- Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
- (2009) Eva Morava et al. MITOCHONDRION
- Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis
- (2009) F. Medja et al. MITOCHONDRION
- Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
- (2009) Valeria Tiranti et al. NATURE MEDICINE
- AGC1 Deficiency Associated with Global Cerebral Hypomyelination
- (2009) Rolf Wibom et al. NEW ENGLAND JOURNAL OF MEDICINE
- C. elegans ATAD-3 Is Essential for Mitochondrial Activity and Development
- (2009) Michael Hoffmann et al. PLoS One
- Next generation sequence analysis for mitochondrial disorders
- (2009) Valeria Vasta et al. Genome Medicine
- NDUFA2 Complex I Mutation Leads to Leigh Disease
- (2008) Saskia J.G. Hoefs et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pathogenic Mitochondrial DNA Mutations Are Common in the General Population
- (2008) Hannah R. Elliott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system
- (2008) Antoon J. M. Janssen et al. ANNALS OF NEUROLOGY
- Next-Generation DNA Sequencing Methods
- (2008) Elaine R. Mardis Annual Review of Genomics and Human Genetics
- Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment
- (2008) Werner J.H. Koopman et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Diseases caused by defects of mitochondrial carriers: A review
- (2008) Ferdinando Palmieri BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays
- (2008) J.H. Willis et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
- (2008) Saskia B. Wortmann et al. BRAIN
- The Mitochondrial Proteome: From Inventory to Function
- (2008) Chris Meisinger et al. CELL
- A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
- (2008) David J. Pagliarini et al. CELL
- Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note
- (2008) M. C. de Vries et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The in-depth evaluation of suspected mitochondrial disease
- (2008) Richard H. Haas et al. MOLECULAR GENETICS AND METABOLISM
- Prevalence of mitochondrial DNA disease in adults
- (2007) Andrew M. Schaefer et al. ANNALS OF NEUROLOGY
- Inherited Mitochondrial Diseases of DNA Replication
- (2007) William C. Copeland Annual Review of Medicine
- Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates
- (2007) T. Honzik et al. EARLY HUMAN DEVELOPMENT
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started