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Страна 1 од 32 резултати
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child.
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Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid
Hereditary fructose intolerance in the vomiting infant.
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[Acetonemic vomiting symptomatic of a congenital intolerance to fructose in 2 sisters].
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Aldolase B and fructose intolerance.
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Hereditary fructose intolerance is an autosomal recessive disorder that illustrates vividly the interplay between heredity and environment in the genesis of human nutritional disease. Genetically determined defects of an isozyme of fructose bisphosphate aldolase (aldolase B, which is specialized for
Doctor, my son is so tired... about a case of hereditary fructose intolerance.
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We present the case of a 17-year-old male who was diagnosed at birth with hereditary fructose intolerance (HFI). The patient complained of morning-time asthenia and post-prandial drowsiness despite a correct sleep pattern. The physical examination and biological check-up only showed severe vitamin C
Fruit-induced FPIES masquerading as hereditary fructose intolerance.
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Hereditary fructose intolerance (HFI) symptoms develop at first introduction of fruit during weaning. We report on an infant with suspected HFI who presented with repeated episodes of vomiting and hypotension after ingestion of fruit-containing meals. The first episode occurred at age 4 months.
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
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Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency.
All patients diagnosed with FBPase deficiency from 2010 to 2015 were
[Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report].
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OBJECTIVE
To report the first case of fructose-1,6-bisphosphatase (FBPase) deficiency diagnosed by genetic sequencing in China, and to improve the cognition of this rare disease.
METHODS
The clinical and laboratory characteristics of FBPase deficiency were reviewed, and the findings of direct
A subchronic intravenous toxicity study of magnesium fructose-1,6-diphosphate in beagle dogs.
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Magnesium fructose-1,6-diphosphate is a novel agent of antimyocardial ischaemia. In the present study, the subchronic toxicity of magnesium fructose-1,6-diphosphate was investigated after 13-week repeated intravenous administration in beagle dogs. The animals received doses of 0, 75, 150 and 300
Adult hereditary fructose intolerance.
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Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic cases.
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Twenty infants and young children with hereditary fructose intolerance (HFI) were admitted to hospital. None was diagnosed at admission. Referals were for vomiting of unknown aetiology (16X), pyloric stenosis or hiatus hernia (5X), toxic condition (3X), and hepatomegaly of unknown origin (5X).
Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.
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In the past 5 years we have discovered 8 boys and 3 girls who suffer from fructose-1,6-bisphosphatase deficiency. Although they all showed the typical symptoms of the deficiency such as frequent vomiting, hypoglycemia, lactic acidosis, and hepatomegaly, the age at diagnosis varied from 2 months to 4
[Clinical heterogeneity in fructose intolerance].
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We observed eight infants with hereditary fructose intolerance which had been diagnosed by the fructose tolerance test and an aldolase assay on biopsied liver. None of these had been diagnosed before their admission to our department. The most frequent symptoms were vomiting and failure to thrive.
[Diagnostic procedures in hereditary fructose intolerance (author's transl)].
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In order to diagnose hereditary fructose intolerance up to now, there were only the dangerous fructose-load and the biochemical evidence of this metabolic defect from biopsies of liver, intestine or kidney. Since there are no screening tests nor tests for heterocygote carriers or prenatal diagnostic
Non responsive celiac disease due to coexisting hereditary fructose intolerance.
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Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose. An association between these
Најкомплетнија база лековитог биља подржана науком
- Ради на 55 језика
- Биљни лекови потпомогнути науком
- Препознавање биљака по слици
- Интерактивна ГПС мапа - означите биље на локацији (ускоро)
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