Results 31 to 40 of about 4,704 (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

Acute intermittent porphyria: Diagnostic dilemma and treatment options

Journal of Anaesthesiology Clinical Pharmacology, 2015
Acute intermittent porphyria (AIP) presents with diverse group of symptoms making its early diagnosis difficult. Delaying diagnosis and treatment of AIP can be fatal or can cause long term or permanent neurological damage.
Mohan Deep Kaur, Nita Hazarika, Namita Saraswat, Rajesh Sood   +3 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

Root Structural and Metabolic Plasticity Confers Tolerance to Salinity in Wild Barley Species Grown Under Waterlogging

Plant, Cell &Environment, Volume 49, Issue 8, Page 5593-5606, August 2026.
ABSTRACT Salinity combined with waterlogging is a major abiotic stress that severely limits crop growth and yield. We investigated species‐specific adaptations to salinity under constant waterlogging conditions in the wild halophytic barleys Hordeum marinum and H. glaucum, compared with the cultivated H. vulgare.
Stanislav Isayenkov, Ljudmilla Borisjuk, Simon Mayer, Alexander Hilo, Dominic Knoch, Tobias Meitzel, Bettina Hause, Yudelsy Antonia Tandron Moya, Hardy Rolletschek, Edgar Peiter, Volodymyr Radchuk   +10 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

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

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

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