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homocystinuria/seizures
L'enllaç es desa al porta-retalls
Pàgina 1 des de 66 resultats
Folic acid responsive rages, seizures and homocystinuria.
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Atypical BECTS and homocystinuria.
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Reported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures. In all three, EEG were suggestive of BECTS, although the clinical
Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity.
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We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and neurologic dysfunction that included developmental delay and tonic seizures. There was no methylmalonic aciduria. Cyanocobalamin therapy was accompanied by complete hematologic and neurologic recovery,
Homocystinuria in Thai patient--Phramongkutklao Hospital experience.
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Homocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I) homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine. The authors report a 15-year-old Thai
Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients.
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OBJECTIVE
Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis.
METHODS
The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital
Practical management of combined methylmalonicaciduria and homocystinuria.
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Combined methylmalonicaciduria and homocystinuria is a disorder of intracellular cobalamin metabolism that remains a challenge to the physician unfamiliar with the diagnosis. We have followed six patients with combined methylmalonicaciduria and homocystinuria (four males, two females, age 4.2-24
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
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BACKGROUND
Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism.
OBJECTIVE
To
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
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OBJECTIVE
Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China. Patients with this disease can progress to death without timely and effective treatment. This study aimed to analyze the treatment outcomes of patients with combined methylmalonic
[An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters].
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We report a rare male case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency. The onset of his disorder was at 19 years of age, and he had no family history. He initially developed gait disturbance, and then generalized seizure in several months, which made him
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase.
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Homocystinuria is due to enzymatic deficiencies resulting in elevated blood levels of homocysteine (Hcy), homocystine (Hci), and/or methionine (Met) and the clinical presentation of mental retardation, seizures, and cardiovascular disease. Since these symptoms may be closely implicated with
Homocystinuria: pathogenetic mechanisms.
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Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution. The major clinical
Infantile type of homocystinuria with N5,10-methylenetetrahydrofolate reductase defect.
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Two infants of homocystinuria with a defective activity of the N5,10-methylenetetrahydrofolate reductase in the liver, kidney, brain and/or leukocytes were reported. Contrary to four cases with similar biochemical defects reported up to date, the two cases of ours demonstrated peculiar clinical
[Homocystinuria accompanied with cerebral deep venous thrombosis--a case report].
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Homocystinuria is an inborn error of methionine metabolism, of which cause is mainly deficiency of cystathionine synthetase. The major clinical manifestations of homocystinuria are mental retardation, seizures, ectopia lentis, skeletal deformities and occlusive vascular disease. A case of
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis.
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Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein
Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
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Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely
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