Biomarkers for mitochondrial energy metabolism diseases

Exercise testing-based algorithms to diagnose McArdle disease and MAD defects

(2018) J.-B. Noury et al.   ACTA NEUROLOGICA SCANDINAVICA

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

(2018) Sarah Louise Stenton et al.   Essays in Biochemistry

Retrospective natural history of thymidine kinase 2 deficiency

(2018) Caterina Garone et al.   JOURNAL OF MEDICAL GENETICS

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6

(2018) Austin A. Larson et al.   MITOCHONDRION

Biomarkers for Detecting Mitochondrial Disorders

(2018) Josef Finsterer et al.   Journal of Clinical Medicine

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

(2017) Caterina Garone et al.   HUMAN MOLECULAR GENETICS

Acid-base disorders in liver disease

(2017) Bernhard Scheiner et al.   JOURNAL OF HEPATOLOGY

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

(2017) M. Auranen et al.   NEUROMUSCULAR DISORDERS

The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study

(2017) Corinne Alban et al.   Journal of Clinical Medicine

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice

(2017) Alireza Morovat et al.   Journal of Clinical Medicine

Lactate and its many faces

(2016) Marjan Taher et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders

(2016) Roelineke J. Lunsing et al.   EUROPEAN RADIOLOGY

FDG-PET study of patients with Leigh syndrome

(2016) Kauzhiro Haginoya et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases

(2016) Emese Lovadi et al.   MUSCLE & NERVE

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

(2016) Jenni M. Lehtonen et al.   NEUROLOGY

A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases

(2016) Ryan L. Davis et al.   NEUROLOGY

The swinging pendulum of biomarkers in mitochondrial disease

(2016) Hannah E. Steele et al.   NEUROLOGY

Muscle mitochondrial stress adaptation operates independently of endogenous FGF21 action

(2016) Mario Ost et al.   Molecular Metabolism

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

(2016) Raquel Montero et al.   PLoS One

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

(2015) Shuichi Yatsuga et al.   ANNALS OF NEUROLOGY

FGF21 Response to Critical Illness: Effect of Blood Glucose Control and Relation With Cellular Stress and Survival

(2015) Steven E. Thiessen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

(2015) Heidi Peters et al.   MOLECULAR GENETICS AND METABOLISM

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

(2014) Susana Kalko et al.   BMC GENOMICS

Fibroblast growth factor 21 protects the heart from oxidative stress

(2014) Anna Planavila et al.   CARDIOVASCULAR RESEARCH

The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome

(2014) Salvador Meseguer et al.   HUMAN MOLECULAR GENETICS

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

(2014) Wolfgang Sperl et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Comprehensive review on lactate metabolism in human health

(2014) M. Adeva-Andany et al.   MITOCHONDRION

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

(2014) Rosalba Carrozzo et al.   MITOCHONDRION

Ischaemic accumulation of succinate controls reperfusion injury through mitochondrial ROS

(2014) Edward T. Chouchani et al.   NATURE

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers

(2014) N. Weiduschat et al.   NEUROLOGY

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

(2014) S. Koene et al.   NEUROLOGY

Serum Fibroblast Growth Factor-21 Levels Are Associated With Carotid Atherosclerosis Independent of Established Cardiovascular Risk Factors

(2013) Wing Sun Chow et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Using exomarkers to assess mitochondrial reactive species in vivo

(2013) Angela Logan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Relationship of Serum Fibroblast Growth Factor 21 with Abnormal Glucose Metabolism and Insulin Resistance: The Baltimore Longitudinal Study of Aging

(2012) Richard D. Semba et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Complex I deficiency: clinical features, biochemistry and molecular genetics

(2012) Elisa Fassone et al.   JOURNAL OF MEDICAL GENETICS

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Role of creatine as biomarker of mitochondrial diseases

(2012) Sonia Pajares et al.   MOLECULAR GENETICS AND METABOLISM

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography–tandem mass spectrometry (LC–MS/MS)

(2011) Sara Boenzi et al.   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Lactate kinetics in human tissues at rest and during exercise

(2010) Gerrit van Hall   Acta Physiologica

Chronic Exposure to Sulfide Causes Accelerated Degradation of Cytochrome c Oxidase in Ethylmalonic Encephalopathy

(2010) Ivano Di Meo et al.   ANTIOXIDANTS & REDOX SIGNALING

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

Low Citrulline in Leigh Disease: Still a Biomarker of Maternally Inherited Leigh Syndrome

(2010) François-Guillaume Debray et al.   JOURNAL OF CHILD NEUROLOGY

Biomarkers for mitochondrial respiratory chain disorders

(2010) Anu Suomalainen   JOURNAL OF INHERITED METABOLIC DISEASE

A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells

(2010) O. Shaham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Reactive oxygen species generation is modulated by mitochondrial kinases: Correlation with mitochondrial antioxidant peroxidases in rat tissues

(2008) Ana Paula S.A. Santiago et al.   BIOCHIMIE

Presentation and Diagnosis of Mitochondrial Disorders in Children

(2008) Mary Kay Koenig   PEDIATRIC NEUROLOGY