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hyperoxaluria/ataque epiléptico
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8 resultados
[Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions].
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Primary hyperoxaluria is a congenital innate error of the metabolism of the amino acids, that is transmitted like an autosomal recessive character. Two types of hyperoxaluria exist: the primary type I, that corresponds to the peroxisomal enzymatic deficit of the alanine glyoxylate aminotransferase
Fatal cerebro-renal oxalosis after appendectomy.
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A case of a 24-year-old male with fatal cerebro-renal oxalosis assumed to be due to infusions of the sugar surrogate xylitol after appendectomy is reported. The diagnosis was established only after intensive histological investigations following the autopsy. The clinical picture was characterized by
Long daily hemodialysis sessions correct systemic complications of oxalosis prior to combined liver-kidney transplantation: case report.
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An 18-year-old woman diagnosed with piridoxine-resistent primary hyperoxaluria type 1 (PH-1) and progressive renal insufficiency complicated with acute renal failure of obstructive origin who developed systemic oxalosis affecting the heart (cardiomyopathy), the skin (cutaneous ulcers) and vascular
[Renal oxalosis with renal failure after infusion of xylitol].
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METHODS
Ten days after a complication-free operation for early gastric cancer a 61-year old man had a seizure and acute renal failure.
METHODS
A percutaneous renal biopsy was performed to find the cause of the renal failure, which at times required several sessions of haemodialysis.
METHODS
The
Reno-cerebral oxalosis induced by xylitol.
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A 20-year-old man suffering from Crohn's disease developed coma and generalized seizures following ileocecal resection. During postoperative parenteral feeding he received xylitol in an unusually high concentration. CT examinations a few days before death showed intense hypodensity and swelling of
Growth and development in infants after renal transplantation.
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Between January 1, 1978, and August 31, 1985, 13 infants aged 6 to 11 months received primary renal transplants (12, living related donor; one cadaver) at the University of Minnesota. Twelve infants are alive with functioning grafts (10 primary and two second transplants) after 4 months to 7.5
[Cerebrorenal oxalate formation--a metabolic abnormality following parenteral infusions of carbohydrate exchange substances].
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A 46 years old male alcoholic was admitted with an assumed alcohol withdrawal syndrome accompanied by tonic-clonic seizures. Parenteral nutrition with fructose, sorbitol, xylitol, dextran, hydroxyethylstarch, electrolytes, vitamins and amino acids was undertaken. He died 20 d later due to renal
The peroxisome and the eye.
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Several childhood multisystem disorders with prominent ophthalmological manifestations have been ascribed to the malfunction of the peroxisome, a subcellular organelle. The peroxisomal disorders have been divided into three groups: 1) those that result from defective biogenesis of the peroxisome
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