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Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects

The Journal of physiology, 2012-07, Vol.590 (14), p.3349-3360

2012

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Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

Pediatric research, 2020-10, Vol.88 (4), p.556-564

2020

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Splenomegaly - Diagnostic validity, work-up, and underlying causes

PloS one, 2017-11, Vol.12 (11), p.e0186674-e0186674

2017

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Human molecular genetics, 2019-11, Vol.28 (22), p.3805-3814

2019

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β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

JIMD reports, 2022-11, Vol.63 (6), p.540-545

2022

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Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

BMC musculoskeletal disorders, 2017-10, Vol.18 (1), p.419-419, Article 419

2017

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The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

Human molecular genetics, 2013-06, Vol.22 (11), p.2141-2151

2013

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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

International journal of neonatal screening, 2021-07, Vol.7 (3), p.50

2021

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A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum

Clinica chimica acta, 2004-09, Vol.347 (1), p.89-96

Wibrand, Flemming

2004

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The important role of taurine in oxidative metabolism

Advances in experimental medicine and biology, 2006, Vol.583, p.129

2006

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Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

Cells (Basel, Switzerland), 2019-03, Vol.8 (3), p.237

2019

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Molecular genetics and metabolism reports, 2015-06, Vol.3 (C), p.5-10

2015

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Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5968-5976

2019

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Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.241-248

2014

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Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2018-01, Vol.1072, p.259-266

2018

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Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes

American journal of physiology: Gastrointestinal and liver physiology, 2018-01, Vol.314 (1), p.G91-G96

2018

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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

Human molecular genetics, 2022-02, Vol.31 (4), p.523-534

2022

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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Journal of medical genetics, 2015-03, Vol.52 (3), p.203-207

2015

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Hearing impairment and renal failure associated with RMND1 mutations

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.142-147

2016

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A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

Gene, 2013-02, Vol.515 (2), p.372-375

2013

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Cascade screening outcome in a nationwide cohort and genotype-phenotype relationship

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S52-S52

2020

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CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

American journal of human genetics, 2015-02, Vol.96 (2), p.258-265

2015

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Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

American journal of human genetics, 2007-08, Vol.81 (2), p.383-387

2007

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Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects

Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

Splenomegaly - Diagnostic validity, work-up, and underlying causes

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum

The important role of taurine in oxidative metabolism

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency

Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1

Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Hearing impairment and renal failure associated with RMND1 mutations

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

Cascade screening outcome in a nationwide cohort and genotype-phenotype relationship

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

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