180 related articles for article (PubMed ID: 8466247)
1. 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]
2. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
Heikoop JC; van Roermund CW; Just WW; Ofman R; Schutgens RB; Heymans HS; Wanders RJ; Tager JM
J Clin Invest; 1990 Jul; 86(1):126-30. PubMed ID: 2365812
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
Hebestreit H; Wanders RJ; Schutgens RB; Espeel M; Kerckaert I; Roels F; Schmausser B; Schrod L; Marx A
Eur J Pediatr; 1996 Dec; 155(12):1035-9. PubMed ID: 8956940
[TBL] [Abstract][Full Text] [Related]
5. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
Sztriha L; Al-Gazali LI; Wanders RJ; Ofman R; Nork M; Lestringant GG
Dev Med Child Neurol; 2000 Jul; 42(7):492-5. PubMed ID: 10972423
[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. 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]
8. Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.
Heymans HS; Oorthuys JW; Nelck G; Wanders RJ; Schutgens RB
N Engl J Med; 1985 Jul; 313(3):187-8. PubMed ID: 4010717
[No Abstract] [Full Text] [Related]
9. 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]
10. X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.
Sato M; Ishikawa O; Miyachi Y
Dermatology; 1996; 192(1):23-7. PubMed ID: 8832947
[TBL] [Abstract][Full Text] [Related]
11. Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.
Mota CR; Vilarinho A; Nogueira A; Lima MR
J Pediatr Orthop B; 1997 Jan; 6(1):20-3. PubMed ID: 9039662
[TBL] [Abstract][Full Text] [Related]
12. Chondrodysplasia punctata with a mild clinical course.
Nuoffer JM; Pfammatter JP; Spahr A; Toplak H; Wanders RJ; Schutgens RB; Wiesmann UN
J Inherit Metab Dis; 1994; 17(1):60-6. PubMed ID: 7914249
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Plasmalogen biosynthesis in the diagnosis of peroxisomal disorders.
Kremser K; Roscher A
J Clin Chem Clin Biochem; 1989 May; 27(5):315-7. PubMed ID: 2760566
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts.
Singh I; Lazo O; Contreras M; Stanley W; Hashimoto T
Arch Biochem Biophys; 1991 Apr; 286(1):277-83. PubMed ID: 1680308
[TBL] [Abstract][Full Text] [Related]
19. Plasmalogen biosynthesis in peroxisomal disorders: fatty alcohol versus alkylglycerol precursors.
Schrakamp G; Schalkwijk CG; Schutgens RB; Wanders RJ; Tager JM; van den Bosch H
J Lipid Res; 1988 Mar; 29(3):325-34. PubMed ID: 3379344
[TBL] [Abstract][Full Text] [Related]
20. Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol.
Nagan N; Hajra AK; Larkins LK; Lazarow P; Purdue PE; Rizzo WB; Zoeller RA
Biochem J; 1998 May; 332 ( Pt 1)(Pt 1):273-9. PubMed ID: 9576878
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
