Results 41 to 50 of about 4,692 (177)
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS +4 more
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Theranostic Advancements in Brain Cancer: Promising Approaches for Emerging Therapy
Strategies for improving intra‐arterial administration (A) and photodynamic therapy in brain cancer (B). Improving intra‐arterial (IA) administration and photodynamic therapy (PDT) for brain cancer involves enhancing tumor targeting and breaching the blood–brain barrier (BBB). Key strategies include super selective catheterization, using osmotic agents
Bipraban Khanra, Manoj Kumar Sarangi
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A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report [PDF]
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000.
Smilu Mohanlal +4 more
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Isolation and Characterization of SPOTTED LEAF42 Encoding a Porphobilinogen Deaminase in Rice
The formation and development of chloroplasts play a vital role in the breeding of high-yield rice (Oryza sativa L.). Porphobilinogen deaminases (PBGDs) act in the early stage of chlorophyll and heme biosynthesis.
Lin Liu +11 more
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Plastid Engineering for Photosynthesis‐Driven Synthesis of Hyaluronic Acid in Tobacco
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 +10 more
wiley +1 more source
Porphobilinogen Synthase: A Challenge for the Chemist?
The initial steps in the biosynthesis of the tetrapyrrolic dyes, called the 'pigments of life', are highly convergent. The formation of porphobilinogen, the pyrrolic precursor of the tetrapyrrolic skeleton, uses ?-aminolevulinate as the starting
Frédéric Stauffer +4 more
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Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba +3 more
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Porphobilinogen deaminase (PBGD) catalyzes the formation of 1-hydroxymethylbilane (HMB), a crucial intermediate in tetrapyrrole biosynthesis, through a step-wise polymerization of four molecules of porphobilinogen (PBG), using a unique dipyrromethane ...
Navneet Bung +3 more
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Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report
Introduction: Acute hepatic porphyrias (AHP) are a rare group of inherited disorders caused by abnormal functioning of the heme synthesis pathway. Patients often present with diffuse abdominal pain, neurologic dysfunction, and hyponatremia.
Ryan K. Misek, Massimo F. Riitano
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RNA‐Based Therapies for Inherited Metabolic Disorders
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source

