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Results: 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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse.

Emami S, Hanley KP, Esterly NB, Daniallinia N, Williams ML.

Arch Dermatol. 1994 Mar;130(3):325-36.

PMID:
8129411
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
8466247
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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.

PMID:
2365812
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
15.

X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.

Sato M, Ishikawa O, Miyachi Y.

Dermatology. 1996;192(1):23-7.

PMID:
8832947
[PubMed - indexed for MEDLINE]
16.

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Happle R.

Hum Genet. 1979;53(1):65-73.

PMID:
535904
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]

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