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Items: 1 to 20 of 128

1.

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. No abstract available.

PMID:
2512444
2.

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.

PMID:
1519936
3.

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata.

Holmes RD, Wilson GN, Hajra AK.

N Engl J Med. 1987 Jun 18;316(25):1608. No abstract available.

PMID:
3587298
4.

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. No abstract available.

PMID:
8295403
6.

Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome.

Prendiville JS, Zaparackas ZG, Esterly NB.

Arch Dermatol. 1991 Apr;127(4):539-42.

PMID:
2006879
7.

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.

8.

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. No abstract available.

PMID:
1405476
9.

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

Wilson CJ, Aftimos S.

Am J Med Genet. 1998 Jul 7;78(3):300-2.

PMID:
9677071
10.

The syndrome page. X-linked dominant chondrodysplasia punctata (Conradi-Hünermann syndrome).

Krafchik BR.

Pediatr Dermatol. 1989 Jun;6(2):150-1. No abstract available.

PMID:
2748475
11.

Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin.

Malle E, Leis HJ, Steinmetz A, Paschke E, Hoefler G.

Clin Chim Acta. 1993 Aug 31;217(2):205-12.

PMID:
8261630
12.

Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome.

Lindenthal B, Repgen R, Emons D, Lentze MJ, von Bergmann K, Lütjohann D.

Klin Padiatr. 2004 Mar-Apr;216(2):67-9.

PMID:
15106076
13.

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.

14.

Chondrodysplasia punctatas and the peroxisomopathies: overlapping syndrome communities.

Wilson GN, Holmes RD, Hajra AK.

Pathol Immunopathol Res. 1988;7(1-2):113-8. Review. No abstract available.

PMID:
3065763
15.
16.
17.

X-linked dominant Conradi-Hünermann syndrome presenting as congenital erythroderma.

Kalter DC, Atherton DJ, Clayton PT.

J Am Acad Dermatol. 1989 Aug;21(2 Pt 1):248-56.

PMID:
2527874
18.

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com.

Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE.

Nat Genet. 1999 Jul;22(3):286-90.

PMID:
10391218
19.

Rhizomelic chondrodysplasia punctata: another peroxisomal disorder.

Heymans HS, Oorthuys JW, Nelck G, Wanders RJ, Schutgens RB.

N Engl J Med. 1985 Jul 18;313(3):187-8. No abstract available.

PMID:
4010717
20.

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. No abstract available.

PMID:
7807941
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