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Results of search for 'su:"Hydroxymethylbilane Synthase"', page 1 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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1.
[Porphobilinogen deaminase (PBGD)].
[electronic resource]
by
Kondo, M
Daimon, M
Producer:
19991216
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 57 Suppl
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2.
Diagnosis and Treatment of Acute Intermittent Porphyria.
[electronic resource]
by
Bai, Jie
Wang, Zhi Hong
Producer:
20181211
In:
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae
vol. 39
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3.
Computational modeling of the catalytic mechanism of hydroxymethylbilane synthase.
[electronic resource]
by
Bung, Navneet
Roy, Arijit
Priyakumar, U Deva
Bulusu, Gopalakrishnan
Producer:
20190412
In:
Physical chemistry chemical physics : PCCP
vol. 21
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4.
The inhibition of porphobilinogen deaminase by isoporphobilinogen.
[electronic resource]
by
CARPENTER, A T
SCOTT, J J
Producer:
19981101
In:
Biochimica et biophysica acta
vol. 52
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5.
[Porphobilinogen deaminase (PBGD)].
[electronic resource]
by
Kondo, Masao
Producer:
20050310
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 62 Suppl 11
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6.
AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective?
[electronic resource]
by
Brunetti-Pierri, Nicola
Newsome, Philip N
Producer:
20180801
In:
Journal of hepatology
vol. 65
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7.
Gene symbol: HMBS.
[electronic resource]
by
Besana, V
Di Pierro, E
Brancaleoni, V
Ausenda, S
Cappellini, M D
Producer:
20070720
In:
Human genetics
vol. 121
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8.
[Fluorometric microdetermination of uroporphirinogen-1-synthase in blood (author's transl)].
[electronic resource]
by
Usui, T
Udagawa, M
Horie, Y
Producer:
19790313
In:
Rinsho byori. The Japanese journal of clinical pathology
vol. 26
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9.
[Porphobilinogen deaminase (PBGD)].
[electronic resource]
by
Kondo, M
Producer:
19961016
In:
Nihon rinsho. Japanese journal of clinical medicine
vol. 53 Su Pt 1
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10.
Gene symbol: HMBS. Disease: porphyria, acute intermittent.
[electronic resource]
by
Di Pierro, E
Patti, E
Cappellini, M D
Producer:
20040908
In:
Human genetics
vol. 115
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11.
Acute intermittent porphyria.
[electronic resource]
by
Anderson, K E
Sassa, S
Kappas, A
Producer:
19820128
In:
Annals of internal medicine
vol. 95
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12.
[An annotation on porphyria].
[electronic resource]
by
Hahn, H J
Lohmann, R
Drüke, P
Producer:
19840904
In:
Deutsche medizinische Wochenschrift (1946)
vol. 109
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13.
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
[electronic resource]
by
Yu, S
Poulos, V
Stewart, P
Producer:
20010419
In:
Journal of human genetics
vol. 45
Online resources:
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14.
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.
[electronic resource]
by
Whatley, Sharon D
Mason, Nicola G
Rhodes, Jonathan M
Stewart, M Felicity
Reed, Paul
Crowley, Vivion
Darby, Cindy M
Badminton, Michael N
Producer:
20130827
In:
Clinical chemistry
vol. 59
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15.
Tetrapyrrole assembly and modification into the ligands of biologically functional cofactors.
[electronic resource]
by
Warren, M J
Scott, A I
Producer:
19910425
In:
Trends in biochemical sciences
vol. 15
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16.
Determination of erythrocyte porphobilinogen deaminase activity using porphobilinogen as substrate.
[electronic resource]
by
Hsiao, K J
Lee, F Y
Wu, S J
Chang, W J
Producer:
19880114
In:
Clinica chimica acta; international journal of clinical chemistry
vol. 168
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17.
Uroporphyrinogen synthetase in erythrocytes. Its diagnostic value in latent acute intermittent porphyria with special regard to the gene penetrance.
[electronic resource]
by
With, T K
Pedersen, J S
Producer:
19810820
In:
Danish medical bulletin
vol. 28
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18.
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
[electronic resource]
by
Mustajoki, S
Pihlaja, H
Ahola, H
Petersen, N E
Mustajoki, P
Kauppinen, R
Producer:
19980716
In:
Human genetics
vol. 102
Online resources:
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19.
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
[electronic resource]
by
Di Pierro, E
Besana, V
Brancaleoni, V
Ausenda, S
Lonati, P
Cappellini, M D
Producer:
20080402
In:
Human genetics
vol. 122
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20.
Purification of human erythrocyte porphobilinogen deaminase.
[electronic resource]
by
Corrigall, A V
Meissner, P N
Kirsch, R E
Producer:
19911031
In:
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde
vol. 80
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