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hartnup disease/triptófano
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Página 1 a partir de 17 resultados
Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester.
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Tryptophan ethyl ester, a lipid-soluble tryptophan derivative, was used to bypass defective gastrointestinal neutral amino acid transport in a child with Hartnup disease. The child's baseline tryptophan concentrations in serum (20 +/- 6 microM) and cerebrospinal fluid (1.0 +/- 0.2 microM) were
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease.
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Transport of lysine, arginine, cystine, and tryptophan was studied in cultured skin fibroblasts from normal controls and from patients with cystinuria and Hartnup disease. Each of these amino acids was accumulated against concentration gradients by energy-dependent, saturable mechanisms. Lysine and
A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease.
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Two cases of Hartnup disease were diagnosed in a five member family. A changeable polymorph and severe clinical features of a 16 year old girl was described. Total plasma amino acids value was significantly decreased in the girl compared to the sum of plasma amino acids value in the brother, mother,
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. I. RESULTS OF INTRAVENOUS AND ORAL TRYPTOPHAN LOADING TESTS IN A CASE OF HARTNUP DISEASE.
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Tryptophan load and uptake of tryptophan by leukocytes in Hartnup disease.
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Tryptophan and its metabolites in a family with Hartnup disease.
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BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. II. SOME OBSERVATIONS ON RATS ABOUT TRYPTOPHAN METABOLISM.
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Use of ethyl esters of tryptophan to bypass the absorption defect in Hartnup disease.
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Tryptophan metabolism in nervous disease.
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The paper describes effects of tryptophan loading on tryptophan metabolism in healthy persons as well as alterations of tryptophan metabolism observed in varians diseases associated with nervous symptoms, i.e. Wilson's disease, Hartnup disease, phenylketonuria and acute intermittent porphyria. The
Intestinal absorption of two dipeptides in Hartnup disease.
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The results of oral tolerance tests of two dipeptides and of their constitutent amino acids are compared in normal subjects and in a case of Hartnup disease. In the control subjects the rate of absorption of phenylalanine from phenylalanyl-phenylalanine and of tryptophan from glycyl-tryptophan was
Intermittent dystonia in Hartnup disease.
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A 6-month-old girl developed intermittent dystonic posture of the legs and eczematous dermatitis without ataxia. Qualitative and quantitative urine amino acid testing confirmed the diagnosis of Hartnup disease. Cranial computed tomography, electroencephalogram, electromyogram/nerve conduction study,
Hartnup disease. Clinical, pathological, and biochemical observations.
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Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical abnormalities. A family is described in which three siblings had an intermittently progressive neurological disease and two of the affected siblings had the Hartnup-pattern
Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease.
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A severely affected case of Hartnup disease is reported, where the patient responded rapidly to nicotinamide. This supports the view that all the clinical features, except reduced stature from general nutritional defect, are secondary to tryptophan and nicotinamide deficiency rather than to an
Hartnup disease.
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A 10 year old girl presented with clinical signs and symptoms of the triad of niacin deficiency namely skin eruptions, ataxia, mental changes and diarrhea. Although this deficiency could be nutritional where maize is a staple diet, this patient had neutral aminoaciduria which indicated a defective
[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)].
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Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria
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