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Article
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa1. It is an autosomal recessive condition and is sub...
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Reference Work Entry In depth
Ketotic Hypoglycaemia of Infancy
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Chapter
Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism
Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of gal...
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Article
Synthesis and antimicrobial activity of 5-((3-aryl-1-phenyl-1H-pyrazol-4-yl)methylene)thiazolidine-2,4-diones
A series of 5-((3-aryl-1-phenyl-1H-pyrazol-4-yl)methylene)thiazolidine-2,4-diones was synthesized by Knoevenagel condensation of various 3-aryl-1-phenyl-1H-pyrazole-4-carbaldehydes (1a–h) with thiazolidine-2,4-di...
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Article
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis
Andrew Hattersley, Jorge Ferrer and colleagues use epigenomic annotation of pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis....
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Article
Open AccessGenotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
Hyperinsulinaemic hypoglycaemia (HH) is a group of clinically and genetically heterogeneous disorders characterized by unregulated insulin secretion. Abnormalities in nine different genes (ABCC8, KCNJ11, GLUD1, G...
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Article
Effect of Rheology and Poloxamers Properties on Release of Drugs from Silicon Dioxide Gel-Filled Hard Gelatin Capsules—A Further Enhancement of Viability of Liquid Semisolid Matrix Technology
The liquid and semisolid matrix technology, filling liquids, semi-solids and gels in hard gelatin capsule are promising, thus, there is a need of enhanced research interest in the technology. Therefore, the pr...
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Article
In Vivo Evaluation of a Novel Chitosan-Polycaprolactone Based Mucoadhesive Gastro-Retentive Sustained Release Drug Delivery System for Milnacipran HCl
The study was aimed to develop a gastro-retentive mucoadhesive sustained release matrix formulation for milnacipran HCl (MCN) by using the design of experiment (DoE). The gastro-retentive swellable mucoadhesiv...
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Article
Asphodelus tenuifolius extracts arrested inflammation and arthritis through modulation of TNF-α, NF-κB, ILs, and COX-2 activities in in vivo models
Asphodelus tenuifolius is traditionally used in the management of rheumatic pain and inflamed body parts. The current study validated its traditional use as an anti-arthritic and anti-inflammatory agent using a s...
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Article
Prediction of CYP-mediated silybin A-losartan pharmacokinetic interactions using physiological based pharmacokinetic modeling
The concomitant use of herbal products and synthetic drugs necessitates the assessment of their interaction potentials. The herbal hepatoprotective medicine, silybin A inhibits cytochrome P450 (CYP) 2C9 and 3A...
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Article
Diospyros malabarica (Desr.) Kostel fruits extract attenuated acute and chronic inflammation through modulation of the expression of pro- and anti-inflammatory biomarkers in rat models
Rheumatoid arthritis is a chronic inflammatory disorder of polyarticular tissues, characterised by progressive synovitis. Its prolonged treatment imparts a huge burden on the healthcare system and results in t...