Laboratory investigation

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

1991 • 2,240 citations

Mitochondrial Respiratory-Chain Diseases

2003 • 1,573 citations

Tietz Textbook of Clinical Chemistry

1994 • 677 citations

Diagnostic criteria for respiratory chain disorders in adults and children

2002 • 564 citations

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels

1997 • 280 citations

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

2003 • 269 citations

Mitochondrial diseases

2004 • 184 citations

Hurler-like Phenotype

2001 • 141 citations

Recent Developments in the Investigation of Inherited Metabolic Disorders Using Cultured Human Cells

1999 • 63 citations

Laboratory evaluation of urea cycle disorders

2001 • 63 citations

The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

2003 • 57 citations

Electron Microscopic Examination of Skin Biopsy as a Cost-Effective Tool in the Diagnosis of Lysosomal Storage Diseases

1996 • 39 citations

Mitochondrial DNA and Disease

1997 • 35 citations

Clinical Laboratory Methods for Diagnosis of the Porphyrias

1998 • 32 citations

Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis, and Management

2000 • 31 citations

An Immunocytochemical Approach to Detection of Mitochondrial Disorders

2002 • 28 citations

Extracerebral biopsies in neurodegenerative diseases of childhood

1999 • 27 citations

Extracerebral Biopsy in Lysosomal and Peroxisomal Disorders. Ultrastructural Findings

1998 • 27 citations

Mitochondrial Disorders. A Diagnostic Challenge in Clinical Chemistry

1999 • 24 citations

Comprehensive Molecular Diagnosis of Mitochondrial Disorders: Qualitative and Quantitative Approach

2004 • 21 citations

Nuclear Gene Defects in Respiratory Chain Disorders

2001 • 19 citations

Oxidative Phosphorylation Disease Diagnosis

1999 • 18 citations