SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Holme I) srt2:(1995-1999)"

Sökning: WFRF:(Holme I) > (1995-1999)

  • Resultat 1-12 av 12
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  •  
3.
  • Blomquist, H K, et al. (författare)
  • Glycerol kinase deficiency in two brothers with and without clinical manifestations.
  • 1996
  • Ingår i: Clinical genetics. - 0009-9163 .- 1399-0004. ; 50:5, s. 375-9
  • Tidskriftsartikel (refereegranskat)abstract
    • We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
  •  
4.
  •  
5.
  •  
6.
  • Abrahamsson, Kate, 1959, et al. (författare)
  • Effect of short-term treatment with pivalic acid containing antibiotics on serum carnitine concentration--a risk irrespective of age.
  • 1995
  • Ingår i: Biochemical and molecular medicine. - : Elsevier BV. - 1077-3150. ; 55:1, s. 77-9
  • Tidskriftsartikel (refereegranskat)abstract
    • Treatment with pivalic acid containing prodrugs has been shown to cause carnitine depletion by loss of pivaloyl carnitine in urine. A 7-day standard pivmecillinam treatment of adults lead to a marked decrease of the free serum carnitine concentration (44.6 to 12.9 mumol/liter), whereas no change was seen in those given norfloxacine (40.0 to 40.5 mumol/liter). In some patients irrespective of age the free serum carnitine concentration was decreased to levels (around 10 mumol/liter) at which an impaired ketone-body production may occur. Therefore, there is reason for cautious use of this type of drug irrespective of the age of the patients.
  •  
7.
  •  
8.
  •  
9.
  •  
10.
  •  
11.
  •  
12.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-12 av 12

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy