Sjögren-Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 1-9

  Rizzo, William B ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Oxidation; Fatty alcohol; Fatty aldehyde; Ichthyosis; Leukotriene; Mental retardation; Mutation; Spastic diplegia

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDEHYDE DERIVATIVE; AMINE; ANTICONVULSIVE AGENT; BEZAFIBRATE; FATTY ALCOHOL; FATTY ALDEHYDE DEHYDROGENASE; GLYCEROLIPID; ICOSANOID; KERATOLYTIC AGENT; LEUKOTRIENE B4; LIPID; RETINOID; SCHIFF BASE; SPHINGOLIPID; ZILEUTON;

ALDEHYDE DEHYDROGENASE 3A2 GENE; AMINO ACID SUBSTITUTION; CATALYSIS; COGNITIVE DEFECT; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME METABOLISM; FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY; FIBROBLAST CULTURE; GENE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENE TRANSFER; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HISTOCHEMISTRY; HUMAN; ICHTHYOSIS; ICOSANOID METABOLISM; LEUKOCYTE CULTURE; LIPID STORAGE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; MYOPIA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; REVIEW; RNA SPLICING; SEIZURE; SJOEGREN LARSSON SYNDROME; SPASTIC PARAPLEGIA;

ALDEHYDE OXIDOREDUCTASES; HUMANS; LIPID METABOLISM; SJOGREN-LARSSON SYNDROME;

EID: 33845231217     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.006     Document Type: Review

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