132 related articles for article (PubMed ID: 7807941)
1. Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.
Wanders RJ; Dekker C; Hovarth VA; Schutgens RB; Tager JM; Van Laer P; Lecoutere D
J Inherit Metab Dis; 1994; 17(3):315-8. PubMed ID: 7807941
[No Abstract] [Full Text] [Related]
2. A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
Poll-The BT; Maroteaux P; Narcy C; Quetin P; Guesnu M; Wanders RJ; Schutgens RB; Saudubray JM
J Inherit Metab Dis; 1991; 14(3):361-3. PubMed ID: 1770792
[No Abstract] [Full Text] [Related]
3. Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
Motley AM; Tabak HF; Smeitink JA; Poll-The BT; Barth PG; Wanders RJ
Biochim Biophys Acta; 1996 Apr; 1315(3):153-8. PubMed ID: 8611652
[TBL] [Abstract][Full Text] [Related]
4. Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders.
de Vet EC; Biermann J; van den Bosch H
Eur J Biochem; 1997 Jul; 247(2):511-7. PubMed ID: 9266692
[TBL] [Abstract][Full Text] [Related]
5. Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.
Heikoop JC; Wanders RJ; Strijland A; Purvis R; Schutgens RB; Tager JM
Hum Genet; 1992 Jun; 89(4):439-44. PubMed ID: 1618493
[TBL] [Abstract][Full Text] [Related]
6. Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata.
Suzuki Y; Shimozawa N; Izai K; Uchida Y; Miura K; Akatsuka H; Nagaya M; Yamaguchi S; Orii T
J Inherit Metab Dis; 1993; 16(5):868-71. PubMed ID: 8295403
[No Abstract] [Full Text] [Related]
7. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
Poll-The BT; Skjeldal OH; Stokke O; Poulos A; Demaugre F; Saudubray JM
Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
[TBL] [Abstract][Full Text] [Related]
8. Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome.
Clayton PT; Kalter DC; Atherton DJ; Besley GT; Broadhead DM
J Inherit Metab Dis; 1989; 12 Suppl 2():358-60. PubMed ID: 2512444
[No Abstract] [Full Text] [Related]
9. Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease.
Emami S; Rizzo WB; Hanley KP; Taylor JM; Goldyne ME; Williams ML
Arch Dermatol; 1992 Sep; 128(9):1213-22. PubMed ID: 1519936
[TBL] [Abstract][Full Text] [Related]
10. Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.
Balfe A; Hoefler G; Chen WW; Watkins PA
Pediatr Res; 1990 Mar; 27(3):304-10. PubMed ID: 2181395
[TBL] [Abstract][Full Text] [Related]
11. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
Barr DG; Kirk JM; al Howasi M; Wanders RJ; Schutgens RB
Arch Dis Child; 1993 Mar; 68(3):415-7. PubMed ID: 8466247
[TBL] [Abstract][Full Text] [Related]
12. Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.
Holmes RD; Wilson GN; Hajra AK
N Engl J Med; 1987 Jun; 316(25):1608. PubMed ID: 3587298
[No Abstract] [Full Text] [Related]
13. Immunological analyses of alkyl-dihydroxyacetone-phosphate synthase in human peroxisomal disorders.
Biermann J; Gootjes J; Humbel BM; Dansen TB; Wanders RJ; van den Bosch H
Eur J Cell Biol; 1999 May; 78(5):339-48. PubMed ID: 10384985
[TBL] [Abstract][Full Text] [Related]
14. Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
Wanders RJ; Schumacher H; Heikoop J; Schutgens RB; Tager JM
J Inherit Metab Dis; 1992; 15(3):389-91. PubMed ID: 1405476
[No Abstract] [Full Text] [Related]
15. Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
Hoefler G; Hoefler S; Watkins PA; Chen WW; Moser A; Baldwin V; McGillivary B; Charrow J; Friedman JM; Rutledge L
J Pediatr; 1988 May; 112(5):726-33. PubMed ID: 2452243
[TBL] [Abstract][Full Text] [Related]
16. Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
Heikoop JC; Van den Berg M; Strijland A; Weijers PJ; Schutgens RB; Just WW; Wanders RJ; Tager JM
Biochim Biophys Acta; 1991 Jul; 1097(1):62-70. PubMed ID: 1677591
[TBL] [Abstract][Full Text] [Related]
17. Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome.
Schrakamp G; Roosenboom CF; Schutgens RB; Wanders RJ; Heymans HS; Tager JM; van den Bosch H
J Lipid Res; 1985 Jul; 26(7):867-73. PubMed ID: 4031664
[TBL] [Abstract][Full Text] [Related]
18. Alkyldihydroxyacetonephosphate synthase from guinea pig liver peroxisomes.
Horie S; Das AK; Hajra AK
Methods Enzymol; 1992; 209():385-90. PubMed ID: 1495419
[No Abstract] [Full Text] [Related]
19. Peroxisomal disorders.
Moser HW
J Pediatr; 1986 Jan; 108(1):89-91. PubMed ID: 2418188
[No Abstract] [Full Text] [Related]
20. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.
Wanders RJ; Schutgens RB; Schrakamp G; van den Bosch H; Tager JM; Schram AW; Hashimoto T; Poll-Thé BT; Saudubrau JM
Eur J Pediatr; 1986 Aug; 145(3):172-5. PubMed ID: 2429839
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]