Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

Journal of Inherited Metabolic Disease

Volumn 26, Issue 7, 2003, Pages 647-658

  Niers, L ^a   Van der Heuvel, L ^a   Trijbels, F ^a   Sengers, R ^a   Smeitink, J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; NUCLEAR PROTEIN; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AMNION CELL; ARTICLE; BIOCHEMISTRY; BIOPSY TECHNIQUE; CHORION VILLUS; CLINICAL EXAMINATION; COMPLEX I DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ANALYSIS; ENZYME DEFICIENCY; FAMILY STUDY; HISTOPATHOLOGY; HUMAN; MEDICAL ASSESSMENT; METABOLIC PARAMETERS; MITOCHONDRIAL DNA DISORDER; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRENATAL DIAGNOSIS; PROTEIN EXPRESSION; RELIABILITY; RESPIRATORY CHAIN; SKELETAL MUSCLE; SKIN FIBROBLAST; TISSUE SPECIFICITY;

ADULT; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; DNA, MITOCHONDRIAL; ENERGY METABOLISM; FEMALE; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0348149002     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000005605.57420.b4     Document Type: Article

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