Difficulties in assessing biochemical properties of abnormal muscle mitochondria

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

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A simplified and reliable assay for complex I in human blood lymphocytes.

Journal of immunological methods·2007

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Annals of human genetics·2007

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Molecular human reproduction·2005

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Neuromuscular disorders : NMD·2004

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From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

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An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal of inherited metabolic disease·2026

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

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The Minimum Frequency of Well-Day Capillary Blood Ketone Testing Needed to Predict 1-Month Diabetic Ketoacidosis Risk in Type 1 Diabetes.

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Epicardial Adipose Tissue and Long-Term Outcomes in CMR-Confirmed MINOCA.

JACC. Asia·2026

Metabolic disorders and osteoarthritis: novel insights into pathological mechanisms and therapeutic strategies.

Life medicine·2026

Transporter Interactions of Methoxyflavones and Their In Vivo Pharmacokinetic Implications.

ACS omega·2026

The liver-gut-brain axis in metabolic dysfunction-associated steatotic liver disease: bidirectional communication, clinical implications, and future perspectives.

Frontiers in endocrinology·2026

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Frontiers in pharmacology·2026

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Difficulties in assessing biochemical properties of abnormal muscle mitochondria

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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

A simplified and reliable assay for complex I in human blood lymphocytes.

Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.

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Difficulties in assessing biochemical properties of abnormal muscle mitochondria

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