-
1
-
-
0000718795
-
Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 8th ed., Vol. 2. New York: McGraw-Hill, 2001:2991-3062.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Ed.
, vol.2
, pp. 2991-3062
-
-
Anderson, K.E.1
Sassa, S.2
Bishop, D.F.3
Desnick, R.J.4
-
2
-
-
0034521694
-
Porphyrins, porphyrin metabolism, and porphyrias. II. Diagnosis and monitoring in the acute porphyrias
-
Thunell S, Harper P, Brock A, Petersen NE. Porphyrins, porphyrin metabolism, and porphyrias. II. Diagnosis and monitoring in the acute porphyrias. Scand J Clin Lab Invest 2000;60:541-59.
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 541-559
-
-
Thunell, S.1
Harper, P.2
Brock, A.3
Petersen, N.E.4
-
3
-
-
12344272034
-
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria
-
von und zu Fraunberg M, Pischik E, Udd L, Kauppinen R. Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria. Medicine (Baltimore) 2005;84:35-47.
-
(2005)
Medicine (Baltimore)
, vol.84
, pp. 35-47
-
-
Fraunberg, M.1
Pischik, E.2
Udd, L.3
Kauppinen, R.4
-
4
-
-
0034522963
-
Porphyrins, porphyrin metabolism, and porphyrias. I. Update
-
Thunell S. Porphyrins, porphyrin metabolism, and porphyrias. I. Update. Scand J Clin Lab Invest 2000;60:509-40.
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 509-540
-
-
Thunell, S.1
-
5
-
-
0023205969
-
Delta-Aminolevulinic acid in plasma, cerebrospinal fluid, saliva, and erythrocytes: Studies in normal, uremic, and porphyric subjects
-
Gorchein A, Webber R. delta-Aminolevulinic acid in plasma, cerebrospinal fluid, saliva, and erythrocytes: studies in normal, uremic, and porphyric subjects. Clin Sci 1987;72:103-12.
-
(1987)
Clin Sci
, vol.72
, pp. 103-112
-
-
Gorchein, A.1
Webber, R.2
-
6
-
-
0015149333
-
The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals
-
Miyagi K, Cardinal R, Bossenmaier I, Watson CJ. The serum porphobilinogen and hepatic porphobilinogen deaminase in normal and porphyric individuals. J Lab Clin Med 1971;78:683-95.
-
(1971)
J Lab Clin Med
, vol.78
, pp. 683-695
-
-
Miyagi, K.1
Cardinal, R.2
Bossenmaier, I.3
Watson, C.J.4
-
8
-
-
0034866653
-
Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry
-
Ford RE, Magera MJ, Kloke KM, Chezick PA, Fauq A, McConnell JP. Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry. Clin Chem 2001;47:1627-32.
-
(2001)
Clin Chem
, vol.47
, pp. 1627-1632
-
-
Ford, R.E.1
Magera, M.J.2
Kloke, K.M.3
Chezick, P.A.4
Fauq, A.5
McConnell, J.P.6
-
9
-
-
0342680036
-
Capillary zone electrophoresis/mass spectrometry of 5-aminolevulinic acid and porphobilinogen
-
Lord GA, Luo JL, Lim CK. Capillary zone electrophoresis/mass spectrometry of 5-aminolevulinic acid and porphobilinogen. Rapid Commun Mass Spectrom 2000;14:314-6.
-
(2000)
Rapid Commun Mass Spectrom
, vol.14
, pp. 314-316
-
-
Lord, G.A.1
Luo, J.L.2
Lim, C.K.3
-
10
-
-
7644237493
-
Liquid chromatography-tandem mass spectrometry method for the simultaneous determination of delta-ALA, tyrosine and creatinine in biological fluids
-
Felitsyn NM, Henderson GN, James MO, Stacpoole PW. Liquid chromatography-tandem mass spectrometry method for the simultaneous determination of delta-ALA, tyrosine and creatinine in biological fluids. Clin Chim Acta 2004;350:219-30.
-
(2004)
Clin Chim Acta
, vol.350
, pp. 219-230
-
-
Felitsyn, N.M.1
Henderson, G.N.2
James, M.O.3
Stacpoole, P.W.4
-
11
-
-
0036821823
-
Acute intermittent porphyria in Sweden. Molecular, functional, and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
-
Floderus Y, Shoolingin-Jordan P, Harper P. Acute intermittent porphyria in Sweden. Molecular, functional, and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet 2002;62:288-97.
-
(2002)
Clin Genet
, vol.62
, pp. 288-297
-
-
Floderus, Y.1
Shoolingin-Jordan, P.2
Harper, P.3
-
12
-
-
0014102155
-
Urinary δ-aminolevulinic acid (ALA) levels in lead poisoning
-
Davis JR, Andelman SL. Urinary δ-aminolevulinic acid (ALA) levels in lead poisoning. Arch Environ Health 1967;15:53-9.
-
(1967)
Arch Environ Health
, vol.15
, pp. 53-59
-
-
Davis, J.R.1
Andelman, S.L.2
-
13
-
-
78651057641
-
The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine
-
Mauzerall D, Granick S. The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine. J Biol Chem 1956;219:435-46.
-
(1956)
J Biol Chem
, vol.219
, pp. 435-446
-
-
Mauzerall, D.1
Granick, S.2
-
15
-
-
0000841697
-
Über den niederschlag welchen pikrinsäure in normalen harn erzeugt und über eine neue reaction des kreatinins
-
Jaffe M. Über den Niederschlag welchen Pikrinsäure in normalen Harn erzeugt und über eine neue Reaction des Kreatinins. Z Physiol Chem 1886;10:391-400.
-
(1886)
Z Physiol Chem
, vol.10
, pp. 391-400
-
-
Jaffe, M.1
-
16
-
-
1542271496
-
Liver transplantation as a cure for acute intermittent porphyria
-
Soonawalla ZF, Orug T, Badminton MN, Elder GH, Rhodes JM, Bramhall SR, et al. Liver transplantation as a cure for acute intermittent porphyria. Lancet 2004;363:705-6.
-
(2004)
Lancet
, vol.363
, pp. 705-706
-
-
Soonawalla, Z.F.1
Orug, T.2
Badminton, M.N.3
Elder, G.H.4
Rhodes, J.M.5
Bramhall, S.R.6
-
17
-
-
0031969634
-
Acute porphyric neuropathy during pregnancy-effect of hematin therapy
-
Wenger S, Meisinger V, Brucke T, Deecke L. Acute porphyric neuropathy during pregnancy-effect of hematin therapy. Eur Neurol 1998;39:187-8.
-
(1998)
Eur Neurol
, vol.39
, pp. 187-188
-
-
Wenger, S.1
Meisinger, V.2
Brucke, T.3
Deecke, L.4
|