cyanocobalamin/epileptični krč

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[Convulsions and encephalopathy as initial manifestations of cyanocobalamin deficiency, without hematologic changes].

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Prijava / prijava

A case of deficiency of cobalamin coenzyme synthesis whose first manifestation was encephalopathy with seizures and no trace of megaloblastic anemia is presented. After a while, signs of posterior cord and polyneural disfunction were detected. We highlight the rareness of the case and the difficulty

Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle.

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Prijava / prijava

A six-month-old beagle was presented with a three-month history of failure to gain weight, lethargy, intermittent vomiting and seizures. Hypoglycaemia, portosystemic shunt, lead intoxication, gastrointestinal diseases and hereditary metabolic disorders were considered. Laboratory test results of low

Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity.

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Prijava / prijava

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,

A review of acute cyanide poisoning with a treatment update.

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Prijava / prijava

Cyanide causes intracellular hypoxia by reversibly binding to mitochondrial cytochrome oxidase a(3). Signs and symptoms of cyanide poisoning usually occur less than 1 minute after inhalation and within a few minutes after ingestion. Early manifestations include anxiety, headache, giddiness,

[Postgastrectomy megaloblastic anemia--possible participation of anti-intrinsic factor antibody in its pathogenesis--report of a case].

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Prijava / prijava

A case of 78-year old man with megaloblastic anemia occurring 20 years after partial gastrectomy is reported. Since about 2 years earlier he had an episode of convulsion, and he had been on anti-convulsants (diphenylhydantion, phenobarbital) until admission. Physical examination revealed a pale lean

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

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Prijava / prijava

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of

Different Neurologic Aspects of Nutritional B12 Deficiency in Infancy.

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Prijava / prijava

The objective of this study is to evaluate neurologic problems caused by nutritional vitamin B12 deficiency in infancy. Twenty-four cases between 2 and 18 months of age with neurologic symptoms and/or signs and diagnosed as nutritional vitamin B12 deficiency were analyzed. The most common symptoms

Methionine synthase deficiency without megaloblastic anaemia.

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Prijava / prijava

We report findings on a child presenting with neonatal homocystinuria, hypomethioninaemia and severe neurological symptoms, including developmental delay and seizures. Methylmalonic aciduria was not present. The activity of methionine synthase in fibroblasts was severely deficient and formation of

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