Results 61 to 70 of about 164,160 (174)

Hemotórax espontáneo: una forma inusual de presentación de la porfiria intermitente aguda

Biomédica: revista del Instituto Nacional de Salud, 2009
Las porfirias son un grupo de alteraciones metabólicas de la síntesis del hem, de carácter hereditario. Son condiciones relativamente raras, de difícil diagnóstico, pero con una respuesta impresionante al tratamiento y con buen pronóstico, si se ...
Juliana Buitrago, Sandra Viviana Santa
doaj   +1 more source

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 more
wiley   +1 more source

Cytological, physiological and transcriptomic analysis of variegated Leaves in Primulina pungentisepala offspring

BMC Plant Biology, 2022
Background Primulina pungentisepala is suitable for use as a potted plant because of its beautiful leaf variegation, which is significantly different in its selfed offspring. However, the mechanism of P. pungentisepala leaf variegation is unclear.
Jiancun Chen, Yueya Li, Dong He, Meng Bai, Bo Li, Qixiang Zhang, Le Luo   +6 more
doaj   +1 more source

14‐3‐3σ up‐regulation in the temporal cortex associates with tau pathology and reactive astroglia in Lewy body disorders

Brain Pathology, Volume 36, Issue 3, May 2026.
14‐3‐3 protein homeostasis is disrupted in Lewy body pathology, showing a diminution of six isotypes and overexpression of stratifin. The latter was associated with stratifin colocalization with tau pathology and reactive astrocytes. Platelets, as a peripheral biomarker source, mirrored inversely cortical 14‐3‐3 gene expression patterns in dementia ...
Laura Marsal‐García, Jorge Mena, Carol‐Ann Lao, David Adamuz, Laura Arnaldo, Cristina Carrato, Alex Menendez, Daniela Samaniego, Dolores Vilas, Lourdes Ispierto, Anna Planas, Ramiro Alvarez, Pau Pastor, Katrin Beyer   +13 more
wiley   +1 more source

Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP) [PDF]

Molecular Medicine, 1999
Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (EC 4.3.1.8; HMB-synthase). This disease is characterized by acute, life-threatening neurologic attacks that are precipitated by various drugs, hormones, and other factors.
C, Solis, I, Lopez-Echaniz, D, Sefarty-Graneda, K H, Astrin, R J, Desnick   +4 more
openaire   +2 more sources

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +1 more source

Plastid Engineering for Photosynthesis‐Driven Synthesis of Hyaluronic Acid in Tobacco

Plant Biotechnology Journal, Volume 24, Issue 4, Page 2541-2558, April 2026.
ABSTRACT Hyaluronic acid (HA) is a glycosaminoglycan composed of alternating units of N‐acetylglucosamine and glucuronic acid. High moisture retention, viscoelasticity and biocompatibility are unique features that make HA polymers attractive compounds for medical applications and aesthetic purposes.
Amanda Lopes, Omar Sandoval‐Ibáñez, Stéphanie Arrivault, David Rolo, F. Vanessa Loiacono, Alexander Erban, Daniel Karcher, Stephan Obst, Stephanie Ruf, Joachim Kopka, Ralph Bock   +10 more
wiley   +1 more source

Modification of hydroxymethylbilane synthase (porphobilinogen deaminase) by pyridoxal 5′-phosphate. Demonstration of an essential lysine residue [PDF]

Biochemical Journal, 1984
When hydroxymethylbilane synthase (porphobilinogen deaminase) from Euglena gracilis is incubated with pyridoxal 5′-phosphate at pH 7.0 and 0 degree C, it rapidly loses part of its activity. The proportion of activity that remains decreases as the concentration of the modifier increases up to approx.
G J, Hart, F J, Leeper, A R, Battersby
openaire   +2 more sources

Placental iron utilisation in fetal growth restriction: alterations in mitochondrial haem synthesis and iron–sulphur cluster assembly pathways

The Journal of Physiology, Volume 604, Issue 5, Page 2229-2249, 1 March 2026.
Abstract figure legend Altered iron handling and mitochondrial pathways in FGR placentas. Placental tissue from FGR pregnancies showed increased expression of iron importers, transferrin and divalent metal transporter 1, and decreased expression of the iron exporter ferroportin, suggesting that the FGR placenta is retaining iron to meet its own ...
Veronica B. Botha, Heather C. Murray, Siddharth Acharya, Kirsty G. Pringle, Roger Smith, Joshua J. Fisher   +5 more
wiley   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source