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Results: 1 to 20 of 188

1.

delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.

Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S.

Mol Genet Metab. 2006 Apr;87(4):329-36. Epub 2005 Dec 15.

PMID:
16343966
[PubMed - indexed for MEDLINE]
2.

Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria.

Akagi R, Shimizu R, Furuyama K, Doss MO, Sassa S.

Hepatology. 2000 Mar;31(3):704-8.

PMID:
10706561
[PubMed - indexed for MEDLINE]
3.

Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria.

Akagi R, Nishitani C, Harigae H, Horie Y, Garbaczewski L, Hassoun A, Mercelis R, Verstraeten L, Sassa S.

Blood. 2000 Nov 15;96(10):3618-23.

PMID:
11071662
[PubMed - indexed for MEDLINE]
Free Article
4.

Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria.

Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A, Sassa S.

J Clin Invest. 1992 May;89(5):1431-7.

PMID:
1569184
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany.

Doss MO, Stauch T, Gross U, Renz M, Akagi R, Doss-Frank M, Seelig HP, Sassa S.

J Inherit Metab Dis. 2004;27(4):529-36.

PMID:
15303011
[PubMed - indexed for MEDLINE]
6.

Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria.

Ishida N, Fujita H, Noguchi T, Doss M, Kappas A, Sassa S.

Biochem Biophys Res Commun. 1990 Oct 15;172(1):237-42.

PMID:
2222472
[PubMed - indexed for MEDLINE]
7.

Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease.

Sassa S, Ishida N, Fujita H, Fukuda Y, Noguchi T, Doss M, Kappas A.

Trans Assoc Am Physicians. 1992;105:250-9.

PMID:
1309003
[PubMed - indexed for MEDLINE]
8.

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity.

Akagi R, Yasui Y, Harper P, Sassa S.

Br J Haematol. 1999 Sep;106(4):931-7.

PMID:
10519994
[PubMed - indexed for MEDLINE]
9.

Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria.

Maruno M, Furuyama K, Akagi R, Horie Y, Meguro K, Garbaczewski L, Chiorazzi N, Doss MO, Hassoun A, Mercelis R, Verstraeten L, Harper P, Floderus Y, Thunell S, Sassa S.

Blood. 2001 May 15;97(10):2972-8.

PMID:
11342419
[PubMed - indexed for MEDLINE]
Free Article
10.

ALAD porphyria is a conformational disease.

Jaffe EK, Stith L.

Am J Hum Genet. 2007 Feb;80(2):329-37. Epub 2006 Dec 21.

PMID:
17236137
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

[delta-Aminolevulinate dehydratase deficiency].

Fujita H, Ishida N, Akagi R.

Nihon Rinsho. 1995 Jun;53(6):1408-17. Review. Japanese.

PMID:
7616655
[PubMed - indexed for MEDLINE]
13.

Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.

Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, Phillips JD, Sassa S.

Br J Haematol. 2006 Jan;132(2):237-43. Erratum in: Br J Haematol. 2006 Mar;132(5):662.

PMID:
16398658
[PubMed - indexed for MEDLINE]
14.

ALAD porphyria.

Sassa S.

Semin Liver Dis. 1998;18(1):95-101. Review.

PMID:
9516683
[PubMed - indexed for MEDLINE]
15.

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ.

Am J Hum Genet. 1991 Jul;49(1):167-74.

PMID:
2063868
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Late-onset porphyrias: what are they?

Sassa S, Akagi R, Nishitani C, Harigae H, Furuyama K.

Cell Mol Biol (Noisy-le-grand). 2002 Feb;48(1):97-101. Review.

PMID:
11929054
[PubMed - indexed for MEDLINE]
17.

New type of acute porphyria with porphobilinogen synthase (delta-aminolevulinic acid dehydratase) defect in the homozygous state.

Doss M, Schneider J, Von Tiepermann R, Brandt A.

Clin Biochem. 1982 Feb;15(1):52-5.

PMID:
7067077
[PubMed - indexed for MEDLINE]
18.

Metals control activity and expression of the heme biosynthesis enzyme delta-aminolevulinic acid dehydratase in Bradyrhizobium japonicum.

Chauhan S, Titus DE, O'Brian MR.

J Bacteriol. 1997 Sep;179(17):5516-20.

PMID:
9287008
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Antagonistic effect in vivo of zinc on inhibition of delta-aminolevulinic acid dehydratase by lead.

Haeger-Aronsen B, Sch├╝tz A.

Arch Environ Health. 1976 Jul-Aug;31(4):215-20.

PMID:
942264
[PubMed - indexed for MEDLINE]
20.

A mutation in the gene for delta-aminolevulinic acid dehydratase (ALAD) causes hypochromic anemia in the medaka, Oryzias latipes.

Sakamoto D, Kudo H, Inohaya K, Yokoi H, Narita T, Naruse K, Mitani H, Araki K, Shima A, Ishikawa Y, Imai Y, Kudo A.

Mech Dev. 2004 Jul;121(7-8):747-52.

PMID:
15210182
[PubMed - indexed for MEDLINE]
Free Article

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