tyrosinemias/bjúgur

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Corneal organ cultures in tyrosinemia release chemotactic factors.

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Corneal inflammation with subsequent scarring and blindness occurs in the inherited human metabolic disease tyrosinemia type II, yet putative inflammatory mediators in this disorder and in the avascular cornea in general are poorly defined. In a Tyr-fed rat model of tyrosinemia type II,

Role of leukocytes in ocular inflammation of tyrosinemia II.

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In the animal model of tyrosinemia II only corneas from tyrosine(tyr)-fed rats produce chemoattractants in organ culture. To study the role of neutrophils (PMNs) in production of these chemoattractants, leukocytes (WBCs) were depleted using i.p. cyclophosphamide (CP). Saline (SAL)-treated rats

Tyrosinemia: computed tomography, magnetic resonance imaging, diffusion magnetic resonance imaging, and proton spectroscopy findings in the brain.

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In a 5-month-old boy with tyrosinemia, computed tomography revealed diffuse hypodensity in the centrum semiovale. Magnetic resonance (MR) imaging revealed partial signal differences in the white matter and perirolandic regions, and the posterior limbs of the internal capsules revealed higher signal

Clinical Review Report: Nitisinone (Nitisinone Tablets): (Cycle Pharmaceuticals Ltd.): Indication: For the treatment of patients with hereditary tyrosinemia type 1 in combination with dietary restriction of tyrosine and phenylalanine

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Hereditary tyrosinemia type 1 (HT-1) is a rare, autosomal recessive disorder of amino acid metabolism. The deficiency of fumarylacetoacetate hydrolase (FAH), which is the last enzyme in the pathway of tyrosine catabolism, results in the accumulation of toxic metabolites in the FAH-deficient

delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman.

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delta-Aminolevulinic acid dehydratase deficiency porphyria (ALAD porphyria, ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman is reported. The patient was admitted to our hospital complaining of slight cough with low-grade fever, and treated with

Analysis of magnetic resonance imaging findings of children with neurologic complications after liver transplantation.

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OBJECTIVE To analyze the magnetic resonance imaging findings in children diagnosed with neurologic complications after liver transplantation (LT). METHODS A total of 39 patients diagnosed with neurologic complications following LT between 2010 and 2016. Neuroradiologic imaging was performed using

Inborn errors of metabolism in infancy: a guide to diagnosis.

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Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach

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