Results 51 to 60 of about 2,384 (181)

Nucleotide Metabolism in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao, Yiyu Zeng, Yike Xu, Shu Rao, Mouna Khouchani, Hassna Soummane, Jingyi Li, Rui Liu   +7 more
wiley   +1 more source

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 747-756, August 2026.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

Presentations associated with porphyrias in intensive care units

Southwest Respiratory and Critical Care Chronicles, 2016
Porphyrias are a group of uncommon congenital metabolic diseases that are difficult to diagnose as they often present with nonspecific symptoms, mimicking other diseases.
Doungporn Ruthirago, Parunyou Julayanont, Supannee Rassameehiran   +2 more
doaj  

The Synthetic Melanocortin Agonist NDP‐MSH Ameliorates THSD7A‐Associated Membranous Nephropathy in an Active Immunization Mouse Model

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
Active immunization with recombinant THSD7A in mice induces autoreactive B cell activation and differentiation into CD138+ antibody‐secreting cells, leading to the production of anti‐THSD7A autoantibodies, glomerular immune injury and proteinuria, characteristic of membranous nephropathy. NDP‐MSH treatment modulates the MITF/IRF4 axis in primed B cells,
Mingzhuo Zhang, Mengxuan Chen, Yan Ge, William Gunning, Rujun Gong   +4 more
wiley   +1 more source

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Medical Journal, 2018
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj   +1 more source

Schizophrenic Phenotype and Therapeutic Course Associated With Chromosome 22q11.2 Deletion in a Cohort Without Prior Diagnosis of Chromosome 22q11.2 Deletion Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 331-337, July 2026.
ABSTRACT Chromosome 22q11.2 deletion is the greatest single genetic factor predisposing to schizophrenia. The prevalence of schizophrenia reported ranges from 2% to 30% in patients with chromosome 22q11.2 deletion syndrome with a still discussed phenotype.
Micha Gawlik, Paul Schneider, Bruno Pfuhlmann, Jürgen Deckert   +3 more
wiley   +1 more source

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long‐Term Outcomes‐A Case Study

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
Natália Rebeca Alves de Araújo Karpejany, Jose Tiburcio do Monte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos de Serpa Brandão, Adalberto Socorro da Silva, Tiberio Silva Borges dos Santos, Semiramis Jamil Hadad do Monte   +7 more
wiley   +1 more source

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

Porphyria‐Safe Emergency Management in COVID‐Associated GBS‐Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT In COVID‐associated acute neuropathy with abdominal pain, seizures, hyponatremia, hypertension, or hepatic involvement, suspected acute intermittent porphyria should prompt both early PBG/ALA testing and immediate porphyria‐safe medication review to avoid worsening neurovisceral attacks before diagnostic confirmation.
Muhammad Abdullah Awan
wiley   +1 more source

D‐Allulose as a Low‐Calorie Sweetener: A 30‐Day Randomized, Double‐Blind Study on Gastrointestinal Tolerance and Systemic Safety to Support Its Application in Healthy Diets

Food Science &Nutrition, Volume 14, Issue 7, July 2026.
This graphical abstract presents the key design and findings of a 30‐day trial evaluating the safety of fermented D‐allulose in healthy Chinese adults. Fifty eligible adults were randomized to receive either low‐dose (24 g/day, n = 24) or high‐dose (36 g/day, n = 26) D‐allulose for 30 days.
Lijuan Qi, Junyu Ning, Jiangli Han, Nan Zhang, Wenjing Zhang, Fangfang Wang, Dan Li, Zinan Li, Yanmin Nie, Haiming Jing, Shan Gao   +10 more
wiley   +1 more source