Results 61 to 70 of about 1,465,884 (208)

Nerve Function and Dysfunction in Acute Intermittent Porphyria

, 2009
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of the porphobilinogen deaminase gene. Clinical manifestations of AIP are caused by the neurotoxic effects of increased porphyrin precursors, although the ...
Lin, C. S.-Y.; Krishnan, A. V.; Lee, M.-J.; Zagami, A. S.; You, H.-L.; Yang, C.-C.; Bostock, H.; Kiernan, M. C., 李銘仁;楊智超   +1 more
core   +1 more source

Photodynamic Therapy for Facial Rejuvenation Combined Amber LED and Infrared Laser Irradiation: A Pilot Study Comparing ALA and MAL

Journal of Biophotonics, Volume 19, Issue 8, August 2026.
Topical ALA‐ and MAL‐based photodynamic protocols combined with amber light and infrared irradiation produced distinct PpIX fluorescence profiles in photoaged skin, revealing different photodynamic responses and supporting their potential use as complementary strategies for skin rejuvenation and improvement of photoaging‐related strategies.
Tassia Joi Martins, Juliana Teixeira Pedroso, Bruno Henrique Godoi, Juliana Guerra Pinto, Juliana Ferreira‐Strixino   +4 more
wiley   +1 more source

Neurological Complications of Acute Intermittent Porphyria

, 2012
Background: Acute intermittent porphyria (AIP) is an inherited disorder of heme biosynthesis, the clinical manifestations of which are incompletely understood.
郭弘周;黃錦章;朱俊哲;李銘仁;莊雯莉;吳東霖;甯孝真;劉智仰, KUO, HUNG-CHOU;HUANG, CHIN-CHANG;CHU, CHUN-CHE;LEE, MING-JEN;CHUANG, WEN-LI;WU, TONY T.;NING, HSIAO-CHEN;LIU, CHIH-YANG   +1 more
core   +1 more source

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

Acute Intermittent Porphyria: Diagnostic Conundrums [PDF]

, 1994
Summary: Acute intermittent porphyria is a genetic disorder of haem biosynthesis caused by defects in the gene encoding hydroxymethylbilane synthase on the long arm of chromosome 11.
T. J. Peters, W. S. Wassif, Thunell, S., Ylva Flodenis, A. C. Deacon, Peters, T. J., Floderus, Ylva, Wassif, W. S., Deacon, A. C., S. Tliunelp   +9 more
core   +1 more source

Diagnostic difficulty in a patient with recurrent attacks of acute polyneuropathy: Acute intermittent porphyria

, 2021
Acute intermittent porphyria is one of the most common porphyria subtypes. There is a critical need to diagnose porphyria, given its multisystem nature and the poor prognosis associated with incurable cases.
Tokgun, Onur, Tekin, Selma, Karagulmez, Magrur, Degirmenci, Eylem, Erdogan, Cagdas   +4 more
core   +1 more source

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

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

Ed Presentation of Acute Porphyria

, 2009
Abdominal pain is a common complaint for visits to ED. Among the causes of abdominal pain, the acute porphyria may confuse emergency physicians. With wide range of unspecific symptoms and signs, acute porphyria is rarely considered as a differential ...
連婉菁;方震中;賴婷怡;陳文鍾;王秀伯, LIEN, WAN-CHING;FANG, CHENG-CHUNG;LAI, TING-I;CHEN, WEN-JONE;WANG, HSIU-PO   +1 more
core   +1 more source