Results 51 to 60 of about 8,719 (208)
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations [PDF]
The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a form of symptomatic cholelithiasis occurring in young adults, characterized by recurrence of symptoms after cholecystectomy and presence of hepatolithiasis.
Anapaz, V +7 more
core +1 more source
ABSTRACT Sirtuin 6 (SIRT6) is an enzyme belonging to the class of nicotinamide adenine dinucleotide (NAD+) dependent histone deacetylases. It has been of interest due to its multivariate biological role and association with aging‐related diseases and metabolic dysfunctions.
Érika Geicianny de Carvalho Matias +5 more
wiley +1 more source
Liquid chromatography-tandem mass spectrometry - Application in the clinical laboratory [PDF]
This review provides a concise survey of liquid chromatography tandem mass spectrometry (LCTMS) as an emerging technology in clinical chemistry. The combination of two mass spectrometers with an interposed collision cell characterizes LCTMS as an ...
Ford RE +7 more
core +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
doaj
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Quantitative Analyses of Programmed Cell Death (PCD) Relevant Indicators in Postharvest Vegetable
The PCD relevant indicators of postharvest vegetable. ABSTRACT The measurement of factors related to postharvest programmed cell death (PCD) in vegetables is crucial for understanding the physiological and metabolic pathways involved in vegetable ripening, aging, and stress responses. PCD is an actively regulated process orchestrated by the interaction
Qianqian Shi +5 more
wiley +1 more source
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
doaj +1 more source
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
doaj +1 more source

