-
1
-
-
0000016355
-
The Porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Kappas A, Shigeru S, Galbraith RA, Nordmann Y. The Porphyrias In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th edn. New York: McGraw-Hill, 1995; 2103-42
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Edn.
, pp. 2103-2142
-
-
Kappas, A.1
Shigeru, S.2
Galbraith, R.A.3
Nordmann, Y.4
-
2
-
-
0035406122
-
Front line tests for the investigation of suspected porphyria
-
Deacon AC, Elder GH. Front line tests for the investigation of suspected porphyria. J Clin Pathol 2001; 54: 500-7
-
(2001)
J Clin Pathol
, vol.54
, pp. 500-507
-
-
Deacon, A.C.1
Elder, G.H.2
-
3
-
-
0037783955
-
The porphyrias, appropriate test selection
-
Hindmarsh JT. The porphyrias, appropriate test selection. Clin Chim Acta 2003; 333: 203-7
-
(2003)
Clin Chim Acta
, vol.333
, pp. 203-207
-
-
Hindmarsh, J.T.1
-
4
-
-
0037471039
-
Comparison of two assay methods for activities of uroporphyrinogen decarboxylase and coproporphyrinogen oxidase
-
Jones MA, Thientanavanich P, Anderson MD, Lash TD. Comparison of two assay methods for activities of uroporphyrinogen decarboxylase and coproporphyrinogen oxidase. J Biochem Biophys Meth 2003; 55: 241-9
-
(2003)
J Biochem Biophys Meth
, vol.55
, pp. 241-249
-
-
Jones, M.A.1
Thientanavanich, P.2
Anderson, M.D.3
Lash, T.D.4
-
5
-
-
0032231331
-
Familial Porphyria Cutanea Tarda: Characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common haemochromatosis alleles
-
Mendez M, Sorkin L, Rossetti MV, et al. Familial Porphyria Cutanea Tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common haemochromatosis alleles. Am J Hum Genet 1998; 63: 1363-75
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1363-1375
-
-
Mendez, M.1
Sorkin, L.2
Rossetti, M.V.3
-
6
-
-
30844470099
-
-
The European Porphyria Initiative. http://www.porphyria-europe. com (accessed March 2005)
-
-
-
-
7
-
-
0030140415
-
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
-
Meissner PN, Dailey TA, Hift RJ, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996; 13: 95-7
-
(1996)
Nat Genet
, vol.13
, pp. 95-97
-
-
Meissner, P.N.1
Dailey, T.A.2
Hift, R.J.3
-
8
-
-
0024345313
-
Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria
-
Sturrock ED, Meissner PN, Maeder DL, Kirsch RE. Uroporphyrinogen decarboxylase and protoporphyrinogen oxidase in dual porphyria. SAMJ 1989; 76: 405-8
-
(1989)
SAMJ
, vol.76
, pp. 405-408
-
-
Sturrock, E.D.1
Meissner, P.N.2
Maeder, D.L.3
Kirsch, R.E.4
-
9
-
-
84942966757
-
Dual porphyria of coexisting variegata and cutanea tarda
-
Seig I, Bhutani LK, Doss MO. Dual porphyria of coexisting variegata and cutanea tarda. Eur J Clin Chem Biochem 1995; 33: 405-10
-
(1995)
Eur J Clin Chem Biochem
, vol.33
, pp. 405-410
-
-
Seig, I.1
Bhutani, L.K.2
Doss, M.O.3
-
10
-
-
0024584309
-
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies
-
Doss MO. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies. Clin Genet 1989; 35: 146-51
-
(1989)
Clin Genet
, vol.35
, pp. 146-151
-
-
Doss, M.O.1
-
11
-
-
0029027656
-
The diagnosis and follow-up of porphyria
-
Ratnaike S, Blake D. The diagnosis and follow-up of porphyria. Pathology 1995; 27: 142-53
-
(1995)
Pathology
, vol.27
, pp. 142-153
-
-
Ratnaike, S.1
Blake, D.2
-
12
-
-
0018166166
-
Modified erythrocyte uroporphyrinogen 1 synthase assay, and its clinical interpretation
-
Piepkorn NW, Hamernyik P, Labbe RF. Modified erythrocyte uroporphyrinogen 1 synthase assay, and its clinical interpretation. Clin Chem 1978; 24: 1751-4
-
(1978)
Clin Chem
, vol.24
, pp. 1751-1754
-
-
Piepkorn, N.W.1
Hamernyik, P.2
Labbe, R.F.3
-
13
-
-
0030959246
-
Molecular epidemiology and diagnosis of PBG Deaminase gene defects in acute intermittent porphyria
-
Puy H, Deybach JC, Lamoril J, et al. Molecular epidemiology and diagnosis of PBG Deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997; 60: 1373-83
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1373-1383
-
-
Puy, H.1
Deybach, J.C.2
Lamoril, J.3
-
15
-
-
0028858113
-
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria
-
Lundin G, Hashemi J, Floderus Y, et al. Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria. J Med Genet 1995; 32: 979-81
-
(1995)
J Med Genet
, vol.32
, pp. 979-981
-
-
Lundin, G.1
Hashemi, J.2
Floderus, Y.3
-
16
-
-
0035760901
-
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase
-
Phillips JD, Parker TL, Schubert HL, Whitby FG, Hill CP, Kushner JP. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. Blood 2001; 98: 3179-85
-
(2001)
Blood
, vol.98
, pp. 3179-3185
-
-
Phillips, J.D.1
Parker, T.L.2
Schubert, H.L.3
Whitby, F.G.4
Hill, C.P.5
Kushner, J.P.6
-
18
-
-
0031793132
-
The significance of haemochromatosis gene mutations in the general population: Implications for screening
-
Burt MJ, George PM, Upton JD, et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut 1998; 43: 830-6
-
(1998)
Gut
, vol.43
, pp. 830-836
-
-
Burt, M.J.1
George, P.M.2
Upton, J.D.3
|