Structural studies of domain movement in active-site mutants of porphobilinogen deaminase from Bacillus megaterium. [PDF]
Acta Crystallogr F Struct Biol Commun, 2017 Guo J +4 more
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Variegate Porphyria with Coexistent Decrease in Porphobilinogen Deaminase Activity
Acta Dermato-Venereologica, 2001 Variegate porphyria is a rare disease caused by a deficiency of protoporphyrinogen oxidase. In most cases, the clinical findings are a combination of systemic symptoms similar to those occurring in acute intermittent porphyria and cutaneous lesions indistinguishable from those of porphyria cutanea tarda.
Georg Weinlich
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A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria [PDF]
Clinical Case Reports, 2023 Key Clinical Message The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and ...
Jose Malagon‐Rangel +4 more
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Exogenous 2,4-Epibrassinolide Alleviates Alkaline Stress in Cucumber by Modulating Photosynthetic Performance [PDF]
PlantsBrassinosteroids (BRs) are recognized for their ability to enhance plant salt tolerance. While considerable research has focused on their effects under neutral salt conditions, the mechanisms through which BRs regulate photosynthesis under alkaline salt ...
Wenjing Nie +4 more
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PORPHOBILINOGEN DEAMINASE AND ADENOSINE DEAMINASE ACTIVITY AS A POSSIBLE DIAGNOSTIC AID IN LYMPHATIC LEUKEMIAS [PDF]
Medical Journal Armed Forces India, 1999 It has been demonstrated recently that in addition to morphologic and immunologic methods, enzyme characterisation of lymphoid cells is useful in the study and classification of lympho proliferative disorders. Heme biosynthetic pathway and purine metabolism are reported to be disturbed in such patients, this study was an attempt to estimate two enzymes
Alka N. Sontakke, YV SHARMA
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Structural evidence for the partially oxidized dipyrromethene and dipyrromethanone forms of the cofactor of porphobilinogen deaminase: structures of the Bacillus megaterium enzyme at near-atomic resolution. [PDF]
Acta Crystallogr D Biol Crystallogr, 2014 Azim N +8 more
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Acute intermittent porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana +3 more
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Porphobilinogen deaminase
The Plant Journal, 2017 Chao Huang +5 more
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Structure of human porphobilinogen deaminase at 2.8 Å: the molecular basis of acute intermittent porphyria [PDF]
Biochemical Journal, 2009 Raj Gill +8 more
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Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]
Clin Case RepClinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Harper P, Törnhage CJ, Sardh E.
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