Results 61 to 70 of about 295,934 (166)

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

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

Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases

Molecular Genetics and Metabolism Reports
Introduction A male infant presented at three months of age with generalized ataxia, hypotonia, aspiration of liquids and recurrent generalized seizures. He was treated with levetiracetam and phenobarbital.
Manuela Araque, Christopher D. Ma, A. Jordan, Denise Faust, Lisa Mcguire, Herbert. L. Bonkovsky   +5 more
semanticscholar   +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

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

The effect of mitoTEMPO on the development of hypoxia‐induced pulmonary hypertension in male mice

Physiological Reports, Volume 14, Issue 5, March 2026.
MitoTEMPO targets mitochondrial superoxide (O2•−) but showed no protective effect on chronic hypoxia–induced pulmonary hypertension. Pulmonary artery remodeling and right ventricular remodeling developed despite treatment. Abstract Mitochondrial reactive oxygen species (mtROS) have been implicated in the development of chronic hypoxia‐induced pulmonary
Esraa M. Zeidan, Sai Aparna Nagarajan, Akylbek Sydykov, Jens Bier, Monika Brosien, Ashraf Taye, Oleg Pak, Hossein A. Ghofrani, Ralph Theo Schermuly, Werner Seeger, Norbert Weissmann, Natascha Sommer, Claudio Nardiello   +12 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

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Jeremy Clark, Joel Smith, Yoke Leong, Virginia Cronin, Ingrid Winship, Gayle Ross, Timothy Fazio   +6 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