Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-12-2
pubmed:abstractText
This paper describes our present strategy for the investigation of respiratory chain disorders in humans. Because very few of the underlying mutations causing mitochondrial disorders in humans are currently known, biochemical studies constitute a major tool in screening procedures for respiratory chain deficiencies. All biochemical and molecular methods described are scaled-down methods, allowing investigation in both adults and young children. Polarographic studies and/or spectrophotometric studies on whole cells (circulating lymphocytes), isolated mitochondria (skeletal muscle) and tissue homogenates are presented. Advantages and limitations of each approach, as well as useful parameters for the characterization of defects and comparison between various tissues are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0009-8981
pubmed:author
pubmed:issnType
Print
pubmed:volume
228
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
35-51
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Biochemical and molecular investigations in respiratory chain deficiencies.
pubmed:affiliation
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't