Sjögren-Larsson syndrome: Biochemical defects and follow up in three cases

European Journal of Dermatology

Volumn 12, Issue 3, 2002, Pages 263-266

  Auada, Mariam Patrícia ^a   Taube, Maria Beatriz Puzzi ^a   Collares, Edgard F ^a   Tanaka, Ana Maria Uthida ^a   Cintra, Maria Letícia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Biochemical defects; Diet therapy; Ichthyosis; Neurologic abnormalities; Sj gren Larsson syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE; ARACHIDONIC ACID; CANOLA OIL; COLESTYRAMINE; DOCOSAHEXAENOIC ACID; EMOLLIENT AGENT; FATTY ALCOHOL; FATTY ALDEHYDE DEHYDROGENASE; KERATOLYTIC AGENT; MEDIUM CHAIN TRIACYLGLYCEROL; MILK FAT; OMEGA 3 FATTY ACID; OMEGA 6 FATTY ACID; RESIN; UNCLASSIFIED DRUG; UNSATURATED FATTY ACID;

ARTICLE; BIOCHEMISTRY; CALORIC INTAKE; CASE REPORT; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIET SUPPLEMENTATION; DIET THERAPY; ENZYME ACTIVITY; ENZYME DEFECT; FAT INTAKE; FEMALE; FOLLOW UP; HUMAN; INFANT; MALE; NEUROLOGICAL COMPLICATION; PRESCHOOL CHILD; SJOEGREN LARSSON SYNDROME; SKIN FIBROBLAST;

ALDEHYDE OXIDOREDUCTASES; CHILD, PRESCHOOL; DIET THERAPY; FAMILY HEALTH; FEMALE; FIBROBLASTS; HUMANS; INFANT; MALE; MUTATION; SJOGREN-LARSSON SYNDROME; SKIN;

EID: 0036234205     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Sjögren-Larsson syndrome: Congenital ichthyosis, spastic paralysis and oligophrenia
2. Sjögren-Larsson syndrome in Sweden: Distribuition of the gene
3. The Sjögren-Larsson syndrome
4. Update on Sjögren-Larsson syndrome
5. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
6. Sjögren-Larsson syndrome: Report of two cases in twins
7. Sjögren-Larsson syndrome associated with the dandy-walker malformation: Report of a case
8. Sjögren-Larsson syndrome: Early diagnosis, dietary management and biochemical studies in two cases
9. A Sjögren-Larsson syndrome: Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: Nicotinamide adenine dinucleatide oxidoreductase activity
10. Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome
11. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome
12. Sjögren-Larsson syndrome: Case report
13. Le syndrome de Sjögren-Larsson: À propos d'un cas
14. Sjögren-Larsson syndrome: Clinical and MRI/MRS findings in FALDH-deficient patients
15. Ultrastructural study of the skin Sjögren-Larsson syndrome
16. Prenatal diagnosis of Sjögren-Larsson syndrome
17. Sjögren-Larsson syndrome: Postmortem brain abnormalities
18. + Oxidoreductase activity
19. Incomplete Sjögren-Larsson syndrome in two Japanese siblings
20. Depletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejunal mucosa in Sjögren -Larsson syndrome
21. Sjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycle
22. Unsuccessful dietary treatment of Sjögren-Larsson syndrome
23. Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome
24. 5-Lipoxygenase inhibition: A new treatment strategy for Sjögren-Larsson syndrome
25. Altered expression of immunoreactive involucrin in lamellar ichthyosis