Results 61 to 70 of about 5,001 (177)

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 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

Genetics 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, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +1 more source

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

Journal 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, Omar Alhaj MD, Afra Aldaheri MD, Aisha AlShamsi MD, Mozah AlMarshoodi MD, Fatima AlKindi MD, Farooqi Mohammed MD, Raya Almazrouei MD   +7 more
doaj   +1 more source

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

Journal 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, Katyanna Sales Bezerra, Washington Sales Clemente Junior, Jonas Ivan Nobre Oliveira, Douglas Soares Galvão, Umberto Laino Fulco   +5 more
wiley   +1 more source

Acute Intermittent Porphyria in Childhood Presenting with Hypertensive Emergency and Posterior Reversible Encephalopathy Syndrome

Journal of Pediatric Critical Care, 2016
Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj, Pallavi P Dagli, Aasheeta S Shah   +2 more
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Unraveling Protracted Neuropsychiatric Symptoms in a Patient With Altered Post‐Bariatric Pharmacokinetics: A Diagnostic Puzzle

Case Reports in Psychiatry, Volume 2026, Issue 1, 2026.
Objective To report a complex case of serotonin toxicity that evolved into a persistent neuropsychiatric syndrome, complicating the differential diagnosis between protracted toxicity, prolonged SSRI discontinuation syndrome, acute hepatic porphyria, and functional neurological disorder (FND).
Akbar Ali, Christopher E. Potts, Dakota May, Nikhat Kaura   +3 more
wiley   +1 more source

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

Future 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, Jiahui Chen, Shifeng Cao, Yingying Wei, Xingfeng Shao, Feng Xu   +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

Revista 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, Juan Carlos Ayala, Sergio Cervera, Carlos Andrés Villa   +3 more
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