156 related articles for article (PubMed ID: 2666627)
1. Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle.
Rizzo WB; Dammann AL; Craft DA; Black SH; Tilton AH; Africk D; Chaves-Carballo E; Holmgren G; Jagell S
J Pediatr; 1989 Aug; 115(2):228-34. PubMed ID: 2666627
[TBL] [Abstract][Full Text] [Related]
2. Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity.
Rizzo WB; Dammann AL; Craft DA
J Clin Invest; 1988 Mar; 81(3):738-44. PubMed ID: 3343337
[TBL] [Abstract][Full Text] [Related]
3. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.
Rizzo WB; Craft DA
J Clin Invest; 1991 Nov; 88(5):1643-8. PubMed ID: 1939650
[TBL] [Abstract][Full Text] [Related]
4. Carrier detection for Sjögren-Larsson syndrome.
Kelson TL; Craft DA; Rizzo WB
J Inherit Metab Dis; 1992; 15(1):105-11. PubMed ID: 1583866
[TBL] [Abstract][Full Text] [Related]
5. Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome.
Rizzo WB; Craft DA; Somer T; Carney G; Trafrova J; Simon M
J Lipid Res; 2008 Feb; 49(2):410-9. PubMed ID: 17971613
[TBL] [Abstract][Full Text] [Related]
6. Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity.
Koone MD; Rizzo WB; Elias PM; Williams ML; Lightner V; Pinnell SR
Arch Dermatol; 1990 Nov; 126(11):1485-90. PubMed ID: 2241202
[TBL] [Abstract][Full Text] [Related]
7. Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma.
Rizzo WB; Craft DA
J Lipid Res; 2000 Jul; 41(7):1077-81. PubMed ID: 10884288
[TBL] [Abstract][Full Text] [Related]
8. 1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.
S'aulis D; Khoury EA; Zabel M; Rizzo WB
Mol Genet Metab; 2020; 131(1-2):253-258. PubMed ID: 32800643
[TBL] [Abstract][Full Text] [Related]
9. Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis.
Nigro JF; Rizzo WB; Esterly NB
J Am Acad Dermatol; 1996 Nov; 35(5 Pt 1):678-84. PubMed ID: 8912560
[TBL] [Abstract][Full Text] [Related]
10. Sjögren-Larsson syndrome.
Rizzo WB
Semin Dermatol; 1993 Sep; 12(3):210-8. PubMed ID: 8217559
[TBL] [Abstract][Full Text] [Related]
11. Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Staps P; Rizzo WB; Vaz FM; Bugiani M; Giera M; Heijs B; van Kampen AHC; Pras-Raves ML; Breur M; Groen A; Ferdinandusse S; van der Graaf M; Van Goethem G; Lammens M; Wevers RA; Willemsen MAAP
J Inherit Metab Dis; 2020 Nov; 43(6):1265-1278. PubMed ID: 32557630
[TBL] [Abstract][Full Text] [Related]
12. Isolation and characterization of a Chinese hamster ovary cell line deficient in fatty alcohol:NAD+ oxidoreductase activity.
James PF; Rizzo WB; Lee J; Zoeller RA
Proc Natl Acad Sci U S A; 1990 Aug; 87(16):6102-6. PubMed ID: 2201021
[TBL] [Abstract][Full Text] [Related]
13. Proton magnetic resonance spectroscopy of Sjögren-Larsson syndrome heterozygotes.
Kaminaga T; Mano T; Ono J; Kusuoka H; Nakamura H; Nishimura T
Magn Reson Med; 2001 Jun; 45(6):1112-5. PubMed ID: 11378890
[TBL] [Abstract][Full Text] [Related]
14. Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.
Davis K; Holden KR; S'Aulis D; Amador C; Matheus MG; Rizzo WB
J Child Neurol; 2013 Oct; 28(10):1259-65. PubMed ID: 23034980
[TBL] [Abstract][Full Text] [Related]
15. Sjögren-Larsson syndrome: early diagnosis, dietary management and biochemical studies in two cases.
Taube B; Billeaud C; Labrèze C; Entressangles B; Fontan D; Taïeb A
Dermatology; 1999; 198(4):340-5. PubMed ID: 10449931
[TBL] [Abstract][Full Text] [Related]
16. [Sjögren-Larsson syndrome: Pediatric case report].
García-Ortiz L; Gómez-López R; Rivera-Pedroza CI; Santillán-Hernández Y; Chima-Galán MDC; Gutiérrez-Salinas J
Arch Argent Pediatr; 2018 Dec; 116(6):e773-e777. PubMed ID: 30457735
[TBL] [Abstract][Full Text] [Related]
17. Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.
Rizzo WB
Biochim Biophys Acta; 2014 Mar; 1841(3):377-89. PubMed ID: 24036493
[TBL] [Abstract][Full Text] [Related]
18. Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome.
Hernell O; Holmgren G; Jagell SF; Johnson SB; Holman RT
Pediatr Res; 1982 Jan; 16(1):45-9. PubMed ID: 7070875
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods.
Rizzo WB; Craft DA; Kelson TL; Bonnefont JP; Saudubray JM; Schulman JD; Black SH; Tabsh K; Dirocco M; Gardner RJ
Prenat Diagn; 1994 Jul; 14(7):577-81. PubMed ID: 7971759
[TBL] [Abstract][Full Text] [Related]
20. Inherited disorders of fatty alcohol metabolism.
Rizzo WB
Mol Genet Metab; 1998 Oct; 65(2):63-73. PubMed ID: 9787098
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]