Results 51 to 60 of about 4,692 (177)

Acute intermittent porphyria: a test of clinical acumen

open access: yesJournal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital   +3 more
doaj   +1 more source

In Vitro Optimization of Enzymes Involved in Precorrin-2 Synthesis Using Response Surface Methodology.

open access: yesPLoS ONE, 2016
In order to maximize the production of biologically-derived chemicals, kinetic analyses are first necessary for predicting the role of enzyme components and coordinating enzymes in the same reaction system. Precorrin-2 is a key precursor of cobalamin and
Huan Fang   +6 more
doaj   +1 more source

Porphobilinogen [PDF]

open access: yesBiochemical Journal, 1954
G H, COOKSON, C, RIMINGTON
openaire   +3 more sources

Therapeutic Perspectives of SIRT6 Regulation: Computational Analysis of Activation and Inhibition by Bioactive Molecules

open access: yesJournal of Molecular Recognition, Volume 39, Issue 1, January 2026.
ABSTRACT Sirtuin 6 (SIRT6) is an enzyme belonging to the class of nicotinamide adenine dinucleotide (NAD+) dependent histone deacetylases. It has been of interest due to its multivariate biological role and association with aging‐related diseases and metabolic dysfunctions.
Érika Geicianny de Carvalho Matias   +5 more
wiley   +1 more source

A case of fatal acute intermittent porphyria: laboratory diagnosis and pathogenesis considerations / Un caz fatal de porfirie acută intermitentă: diagnostic de laborator şi consideraţii patogenice

open access: yesRomanian Journal of Laboratory Medicine, 2014
Porfiria acută intermitentă (PAI) este o boală metabolică, cu transmitere autosomal dominantă, cu alterarea căii de biosinteză a hemului prin deficitul enzimei porphobilinogen (PBG) dezaminaza. Acest diagnostic trebuie să fie evocate în toate cazurile de
Bălaşa Rodica   +5 more
doaj   +1 more source

Strain engineering and bioprocessing strategies for biobased production of porphobilinogen in Escherichia coli

open access: yesBioresources and Bioprocessing, 2021
Strain engineering and bioprocessing strategies were applied for biobased production of porphobilinogen (PBG) using Escherichia coli as the cell factory.
Davinder Lall   +6 more
doaj   +1 more source

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

open access: yesGenetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro   +8 more
doaj   +1 more source

Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review

open access: yesJournal of Investigative Medicine High Impact Case Reports, 2023
Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP
Asmaa Yusuf MD   +7 more
doaj   +1 more source

Quantitative Analyses of Programmed Cell Death (PCD) Relevant Indicators in Postharvest Vegetable

open access: yesFuture Postharvest and Food, Volume 2, Issue 4, Page 444-457, December 2025.
The PCD relevant indicators of postharvest vegetable. ABSTRACT The measurement of factors related to postharvest programmed cell death (PCD) in vegetables is crucial for understanding the physiological and metabolic pathways involved in vegetable ripening, aging, and stress responses. PCD is an actively regulated process orchestrated by the interaction
Qianqian Shi   +5 more
wiley   +1 more source

La porfiria aguda intermitente y el cirujano: un reto diagnóstico Reporte de un caso y revisión de la literatura Acute intermittent porphyria and the surgeon: a diagnostic challenge. Case report and literature review

open access: yesRevista Colombiana de Cirugía, 2011
La porfiria intermitente aguda es conocida, en el ámbito de la cirugía, como una de las causas de abdomen agudo no quirúrgico. No obstante, lo que no se menciona con frecuencia es la posibilidad de que cualquier procedimiento quirúrgico precipite un ...
Lilian Torregrosa   +3 more
doaj  

Home - About - Disclaimer - Privacy