-
1
-
-
0000718795
-
The porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. New York: McGraw-Hill
-
Anderson K, Sassa S, Bishop D, Desnick R. The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001;2991-3062.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease, 8th Edn.
, pp. 2991-3062
-
-
Anderson, K.1
Sassa, S.2
Bishop, D.3
Desnick, R.4
-
2
-
-
2142765290
-
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: Precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard
-
Hift R, Davidson B, van der Hooft C, Meissner D, Meissner P. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem 2004;50:915-23.
-
(2004)
Clin Chem
, vol.50
, pp. 915-923
-
-
Hift, R.1
Davidson, B.2
Van Der Hooft, C.3
Meissner, D.4
Meissner, P.5
-
3
-
-
12344251028
-
An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
-
Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore) 2005;84:48-60.
-
(2005)
Medicine (Baltimore)
, vol.84
, pp. 48-60
-
-
Hift, R.J.1
Meissner, P.N.2
-
5
-
-
0028940087
-
Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli
-
Nishimura K, Taketani S, Inokuchi H. Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli. J Biol Chem 1995;270:8076-80.
-
(1995)
J Biol Chem
, vol.270
, pp. 8076-8080
-
-
Nishimura, K.1
Taketani, S.2
Inokuchi, H.3
-
6
-
-
0028863791
-
The human protoporphyrinogen oxidase gene (PPOX): Organization and location to chromosome 1
-
Taketani S, Inazawa J, Abe T, Furukawa T, Kohno H, Tokunaga R, et al. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics 1995;29:698-703.
-
(1995)
Genomics
, vol.29
, pp. 698-703
-
-
Taketani, S.1
Inazawa, J.2
Abe, T.3
Furukawa, T.4
Kohno, H.5
Tokunaga, R.6
-
7
-
-
0033361412
-
Variegate porphyria in Western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
-
Whatley S, Puy H, Morgan R, Robreau A, Roberts A, Nordmann Y, et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet 1999;65:984-94.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 984-994
-
-
Whatley, S.1
Puy, H.2
Morgan, R.3
Robreau, A.4
Roberts, A.5
Nordmann, Y.6
-
8
-
-
0026780709
-
Prototype application of a robot in the clinical laboratory enabling fully automated quantification of fecal porphyrins
-
Minder EI, Vuilleumier JP, Vonderschmitt DJ. Prototype application of a robot in the clinical laboratory enabling fully automated quantification of fecal porphyrins. Clin Chem 1992;38:516-21.
-
(1992)
Clin Chem
, vol.38
, pp. 516-521
-
-
Minder, E.I.1
Vuilleumier, J.P.2
Vonderschmitt, D.J.3
-
9
-
-
0018855883
-
A plasma porphyrin fluorescence marker for variegate porphyria
-
Poh-Fitzpatrick M. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol 1980;116:543-7.
-
(1980)
Arch Dermatol
, vol.116
, pp. 543-547
-
-
Poh-Fitzpatrick, M.1
-
10
-
-
0027389060
-
Coproporphyrin isomers in acute-intermittent porphyria
-
Minder EI. Coproporphyrin isomers in acute-intermittent porphyria. Scand J Clin Lab Invest 1993;53:87-90.
-
(1993)
Scand J Clin Lab Invest
, vol.53
, pp. 87-90
-
-
Minder, E.I.1
-
11
-
-
0035014446
-
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria
-
Frank J, Jugert FK, Merk HF, Kalka K, Goerz G, Anderson K, et al. A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. J Invest Dermatol 2001;116:821-3.
-
(2001)
J Invest Dermatol
, vol.116
, pp. 821-823
-
-
Frank, J.1
Jugert, F.K.2
Merk, H.F.3
Kalka, K.4
Goerz, G.5
Anderson, K.6
-
12
-
-
0019250033
-
The clinical and biochemical features of variegate porphyria: An analysis of 300 cases studied at Groote Schuur Hospital, Cape Town
-
Eales L, Day R, Blekkenhorst G. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem 1980;12:837-53.
-
(1980)
Int J Biochem
, vol.12
, pp. 837-853
-
-
Eales, L.1
Day, R.2
Blekkenhorst, G.3
-
13
-
-
0036481572
-
Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria
-
Warnich L, Kimberg M, Kotze MJ, Ohashi T, Taketani S, Louw BJ. Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria. Cell Mol Biol (Noisy-le-grand) 2002;48:57-60.
-
(2002)
Cell Mol Biol (Noisy-le-grand)
, vol.48
, pp. 57-60
-
-
Warnich, L.1
Kimberg, M.2
Kotze, M.J.3
Ohashi, T.4
Taketani, S.5
Louw, B.J.6
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