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Results of search for 'su:"Hydroxymethylbilane Synthase"', page 4 of 44
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Authors
Batlle, A
Batlle, A M
Battersby, A R
Cappellini, M D
Desnick, Robert J
Deybach, J C
Goldberg, A
Grandchamp, B
Jordan, P M
Kappas, A
Moore, M R
Mustajoki, P
Nordmann, Y
Puy, H
Sassa, S
Schoenfeld, N
Shoolingin-Jordan, P M
Thunell, S
Warren, M J
Wilson, J H
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Topics
Adult
Ammonia-Lyases
Animals
Erythrocytes
Female
Heme
Humans
Hydroxymethylbilane Synthase
Male
Mutation
Porphobilinogen Synthase
Porphyria, Acute Intermittent
Porphyrias
analysis
biosynthesis
blood
enzymology
genetics
metabolism
pharmacology
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61.
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
[electronic resource]
by
Mustajoki, P
Desnick, R J
Producer:
19851017
In:
British medical journal (Clinical research ed.)
vol. 291
Online resources:
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62.
Acute intermittent porphyria: rapid molecular diagnosis.
[electronic resource]
by
Puy, H
Aquaron, R
Lamoril, J
Robréau, A M
Nordmann, Y
Deybach, J C
Producer:
19970708
In:
Cellular and molecular biology (Noisy-le-Grand, France)
vol. 43
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63.
Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP.
[electronic resource]
by
Schreiber, W E
Rozon, C
Fong, F
Jamani, A
Producer:
19941107
In:
Clinical chemistry
vol. 40
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64.
[Pathophysiology and diagnosis of acute intermittent porphyria].
[electronic resource]
by
Wichmann, T
Freye, H A
Producer:
19771130
In:
Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete
vol. 32
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65.
Chemistry and biochemistry of the porphyrins and porphyrias.
[electronic resource]
by
Moore, M R
Disler, P B
Producer:
19890314
In:
Clinics in dermatology
vol. 3
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66.
Enzyme abnormalities in the porphyrias.
[electronic resource]
by
Petryka, Z J
Producer:
19780127
In:
Lancet (London, England)
vol. 2
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67.
Acute intermittent porphyria and uroporphyrinogen I synthase. Biochemical study of a family.
[electronic resource]
by
Indaco, A
Carrieri, P
Orefice, G
Sanna, G
Buscaino, G A
Producer:
19811122
In:
Acta neurologica
vol. 3
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68.
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.
[electronic resource]
by
Bottomley, S S
Bonkowsky, H L
Kreimer-Birnbaum, M
Producer:
19811025
In:
American journal of clinical pathology
vol. 76
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69.
[Pathobiochemical observations on porphyrias--the correlation between uroporphyrinogen I synthetase and III cosynthetase activity in congenital erythropoietic porphyria (author's transl)].
[electronic resource]
by
Miyagi, K
Kaneshima, M
Masuya, T
Producer:
19760123
In:
Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society
vol. 38
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70.
Effect of 5-aminolevulinic acid synthesis deficiency on expression of other enzymes of heme pathway in yeast.
[electronic resource]
by
Labbe-Bois, R
Simon, M
Rytka, J
Litwinska, J
Bilinski, T
Producer:
19801124
In:
Biochemical and biophysical research communications
vol. 95
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71.
Uroporphyrinogen I synthase assay as an evaluation of the in vitro development of human BFU-E and CFU-E.
[electronic resource]
by
Claustres, M
Bellet, H
de Bornier, B M
Producer:
19860109
In:
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
vol. 39
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72.
Porphyrin-induced protein structural alternations of heme enzymes. II: Protection of 5-aminolevulinic acid dehydratase and porphobilinogen deaminase from the photodynamic and non-photodynamic effects of URO and PROTO.
[electronic resource]
by
Afonso, S
Enríquez de Salamanca, R
Batlle, A
Producer:
19980813
In:
The international journal of biochemistry & cell biology
vol. 30
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73.
Gene symbol: HMBS. Disease: porphyria, acute intermittent.
[electronic resource]
by
Di Pierro, E
Besana, V
Moriondo, V
Brancaleoni, V
Cappellini, M D
Producer:
20070201
In:
Human genetics
vol. 119
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74.
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
[electronic resource]
by
Solis, C S
Lopez-Echaniz, Idoia
Sefarty-Graneda, David
Astrin, Kenneth H
Desnick, Robert J
Producer:
20040427
In:
Human genetics
vol. 114
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75.
Erythrocyte uroporphyrinogen-I-synthetase activity in acute intermittent porphyria.
[electronic resource]
by
Wilson, J H
van den Berg, J W
Brouwers, D
Coppens, K
van Zellem, J
Producer:
19790425
In:
The Netherlands journal of medicine
vol. 22
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76.
[Acute intermittent porphyria: uroporphyrinogen-I-synthetase activity in erythrocytes as a diagnostic index].
[electronic resource]
by
Formgren, B
Wetterberg, L
Producer:
19780724
In:
Lakartidningen
vol. 75
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77.
Hematologically important mutations: acute intermittent porphyria.
[electronic resource]
by
Cappellini, Maria Domenica
Martinez di Montemuros, Franco
Di Pierro, Elena
Fiorelli, Gemino
Producer:
20030618
In:
Blood cells, molecules & diseases
vol. 28
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78.
Genetic regulation of the red cell uroporphyrinogen-I-synthetase level in families with acute intermittent porphyria.
[electronic resource]
by
Wetterberg, L
Floderus, Y
Thunell, S
Iselius, L
Lindsten, J
Producer:
19840214
In:
Clinical genetics
vol. 24
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79.
Nuclear distribution of porphobilinogen deaminase (PBGD) in glioma cells: a regulatory role in cancer transformation?
[electronic resource]
by
Greenbaum, L
Gozlan, Y
Schwartz, D
Katcoff, D J
Malik, Z
Producer:
20020425
In:
British journal of cancer
vol. 86
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80.
Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria.
[electronic resource]
by
Di Pierro, Elena
Brancaleoni, Valentina
Besana, Valeria
Cappellini, Maria Domenica
Producer:
20091215
In:
Journal of human genetics
vol. 54
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