Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism

Journal of Inherited Metabolic Disease

Volumn 19, Issue 4, 1996, Pages 581-587

  Ruitenbeek, W ^a   Wendel, U ^a   Hamel, B C J ^a   Trijbels, J M F ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHORION VILLUS; CONFERENCE PAPER; DISEASE TRANSMISSION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENZYME DEFICIENCY; GENETIC COUNSELING; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMAN; INHERITANCE; LEBER CONGENITAL AMAUROSIS; MELAS SYNDROME; MENKES SYNDROME; MERRF SYNDROME; POINT MUTATION; PRENATAL DIAGNOSIS; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RECURRENCE RISK;

EID: 0029745044     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799118     Document Type: Conference Paper

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