Results 31 to 40 of about 4,692 (177)

Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. [PDF]

PLoS ONE, 2012
Chronic kidney disease is a long-term complication in acute intermittent porphyria (AIP). The pathophysiological significance of hepatic overproduction of the porphyrin precursors aminolevulinate acid (ALA) and porphobilinogen (PBG) in chronic kidney ...
Carmen Unzu, Ana Sampedro, Eliane Sardh, Itsaso Mauleón, Rafael Enríquez de Salamanca, Jesús Prieto, Eduardo Salido, Pauline Harper, Antonio Fontanellas   +8 more
doaj   +1 more source

A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

Journal of Family Medicine and Primary Care, 2018
Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively.
Garima Agrawal Varshney, Purti Agrawal Saini, Upendra Ghure   +2 more
doaj   +1 more source

Darstellung von Aminomethylpyrrolylmethanen aus Porphobilinogen Chemistry of Porphobilinogen Preparation of Aminomethylpyrrolylmethanes from Porphobilinogen

Zeitschrift für Naturforschung C, 1974
Abstract New methods for the synthesis of the aminomethyldipyrrolylmethane and the aminomethyl-tripyrrane, which are resulting from formal head to tail condensation of porphobilinogen are de­ scribed. Porphobilinogen was used as base material in these procedures.
Jochen Bausch, Albrecht Eberle, Gerhard Miiller   +2 more
openaire   +1 more source

Physiological Characterization and Comparative Transcriptome Analysis of White and Green Leaves of Ananas comosus var. bracteatus. [PDF]

PLoS ONE, 2017
Leaf coloration is one of the most important and attractive characteristics of Ananas comosus var. bracteatus. The chimeric character is not stable during the in vitro tissue culturing.
Xia Li, Surapathrudu Kanakala, Yehua He, Xiaolan Zhong, Sanmiao Yu, Ruixue Li, Lingxia Sun, Jun Ma   +7 more
doaj   +1 more source

Neurodevelopmental Consequences Induced by Early‐Life Lead Exposure Through Disruption of Neurotransmitter Pathways and Molecular Mechanisms: A Systematic Review

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Lead is a toxic heavy metal with significant health risks, as maternal lead exposure during pregnancy disrupts fetal neural development through placental transfer, leading to persistent neurological, developmental, and long‐term health consequences in the progeny.
P. Harshitha, Aluru Parithathvi, Kamalesh Dattaram Mumbrekar, Herman Sunil Dsouza   +3 more
wiley   +1 more source

Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum

JIMD Reports, 2023
A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran.
Christopher D. Ma, Denise Faust, Herbert L. Bonkovsky   +2 more
doaj   +1 more source

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Frontiers in Genetics, 2022
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud, Luis Wittwer, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine, Joelle N. Chabwine   +7 more
doaj   +1 more source

Strain‐Specific Biotransformation of Grape Marc by Lactic Acid Bacteria: Genomic Validation and Gut Microbiota Modulation

Food Frontiers, Volume 7, Issue 4, July 2026.
ABSTRACT Grape marc (GM) is a polyphenol‐rich winery byproduct that remains underutilized due to its complex fiber matrix, which limits the bioaccessibility of bound phenolics. While lactic acid fermentation (LAF) can enhance the release of these compounds, the strain‐specific metabolic fate of GM phenolics during digestion and colonic fermentation ...
Ziyao Liu, Hanjing Wu, Brendan Holland, Colin J. Barrow, Hafiz A. R. Suleria   +4 more
wiley   +1 more source

The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators

Journal of Hospital Medicine, Volume 21, Issue 6, Page 665-669, June 2026.
Abstract Diagnostic reasoning (DR) is a core clinical skill, yet its teaching remains variable. We introduce the “5L” framework as a bedside teaching scaffold that gives educators and learners a shared, stepwise set of prompts for DR during individual encounters. By asking, “What's Lethal? What's Likely? What's Logical? What's Lurking?
Olivia Brumfield, Amal Mohamed, Shuhan He, Cory Rohlfsen   +3 more
wiley   +1 more source

Psychiatric Disorder in Porphyria: A Case Series

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Porphyria is a group of rare genetic disorders that affect the heme production pathway due to specific enzyme abnormalities. These conditions present diverse clinical symptoms, including gastrointestinal, neurovisceral, cutaneous, neurological, and ...
Poulomi Ghosh, Prashant Bhardwaj, Suprakash Chaudhury, Alisha Kumari   +3 more
doaj   +1 more source