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  • 1
    Digitale Medien
    Digitale Medien
    Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child (1999)
    Springer
    Pediatric nephrology 13 (1999), S. 73-76 
    Details
    ISSN: 1432-198X
    Schlagwort(e): Key words Uremia ; Homocysteine ; Cerebrovascular disease ; Thermolabile methylenetetrahydrofolate reductase variant ; Cystinosis ; Folic acid ; Vitamin B12
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract  We report a 13-year-old girl with nephropathic cystinosis on chronic peritoneal dialysis who presented with two episodes of stroke. Laboratory evaluation showed severe hyperhomocysteinemia (108 µmol/l). Further testing revealed that she was homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) gene. Treatment with folic acid and vitamin B12 lowered plasma homocysteine to less than 20 µmol/l. No further episodes of stroke occurred over a follow-up of 12 months. Homocysteine levels should be measured in patients with chronic renal failure, since simple and safe treatment with folic acid and vitamin B12 is effective in lowering the plasma homocysteine level in patients with the thermolabile MTHFR allele.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004670050567
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Nutritional vitamin B12 deficiency: Two cases detected by routine newborn urinary screening (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 218-220 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Vitamin B12 ; Methylmalonic aciduria ; Newborn screening ; Cobalamin
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We describe two asymptomatic newborns with nutritional vitamin B12 deficiency in whom increased urinary methylmalonic acid was detected by routine neonatal screening at 3 weeks of age. Both infants were exclusively breast-fed. One mother suffered from pernicious anaemia, and the other was a strict vegetarian. Both mothers had no clinical or haematological abnormality, aside from a borderline mean corpuscular volume for the vegetarian mother. This report illustrates the early appearance of functional vitamin B12 deficiency in breastfed infants of vitamin B12-depleted mothers. It also demonstrates that urinary methylmalonic acid measurement is a sensitive indicator of tissue vitamin B12 deficiency.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01954389
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  • 3
    Digitale Medien
    Digitale Medien
    Hypocalcaemia and chronic alcohol intoxication: Transient hypoparathyroidism secondary to magnesium deficiency (1996)
    Springer
    Clinical rheumatology 15 (1996), S. 193-196 
    Details
    ISSN: 1434-9949
    Schlagwort(e): Hypoparathyroidism ; Hypomagnesemia ; Alcohol Intoxication
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The authors report the observation of an alcoholic patient admitted for tetanic manifestations, in whom severe hypocalcaemia associated with hyperphosphatemia were suggestive of hypoparathyroidism. Administration of magnesium supplementation alone improved the clinical features and led to the correction of the calcium abnormalities. The mechanisms of hypomagnesemia in alcohol intoxication are reviewed as well as the links with hypocalcaemia.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02230340
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