Sjogren-Larsson syndrome: Two cases with delayed diagnosis;Syndrome de Sjögren-Larsson: Deux cas de diagnostic tardif

Annales de Medecine Interne

Volumn 153, Issue 4, 2002, Pages 280-282

  Misery, Laurent ^a,e   Antoine, Jean Christophe ^b   Touraine, Renaud ^c   Wanders, Ronald ^d   Maitre, Séverine ^a   Has, Christina ^a   Perrot, Jean Luc ^a   Cambazard, Frédéric ^a  

^a Service de dermatologie   (France)

^b Service de Neurologie   (France)

^c UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e CHU MORVAN   (France)

Author keywords

Sj gren Larsson; Spastic paraplegia

Indexed keywords

ALCOHOL; ALDEHYDE DEHYDROGENASE; FATTY ACID ALDEHYDE DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AXILLA; BUTTOCK; CASE REPORT; CHROMOSOME 17; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE ASSOCIATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME DEFICIENCY; EPILEPSY; ERYTHEMA; ERYTHRODERMA; FEMALE; GENE MAPPING; HOSPITALIZATION; HUMAN; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; ONSET AGE; PARAPLEGIA; SJOEGREN LARSSON SYNDROME; SPASTIC PARESIS; SPASTICITY; SYMPTOM;

ADULT; ALDEHYDE OXIDOREDUCTASES; DERMATITIS, EXFOLIATIVE; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MENTAL RETARDATION; MIDDLE AGED; PARAPARESIS, SPASTIC; SJOGREN-LARSSON SYNDROME;

EID: 0036342311     PISSN: 0003410X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Oligophrenia in combination with congenital ichtyosis and spastic disorders
2. Update on Sjögren-Larsson syndrome
3. Sjögren-Larsson syndrome
4. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde deshydrogenase component of fatty alcohol: NAD oxidoreductase in cultured fibroblasts
5. Sjögren Larsson syndrome is caused by a common mutation in northern European and Swedish patients
6. The Sjögren-Larsson syndrome
7. Sjögren-Larsson syndrome
8. Sjögren-Larsson syndrome. Explaining the skin-brain syndrome
9. Ichthosis, mental retardation and asymptomatic spasticity. A neurocutaneous syndrome with normal fatty alcohol
10. Cerebral palsy