Sökning: WFRF:(Holme Elisabeth 1947 ) >
Glycerol kinase def...
Glycerol kinase deficiency in two brothers with and without clinical manifestations.
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Blomquist, H K (författare)
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- Dahl, Niklas (författare)
- Uppsala universitet,Institutionen för genetik och patologi
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Gustafsson, L (författare)
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- Hellerud, Christina, 1955 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
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- Holme, Elisabeth, 1947 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
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Holmgren, G (författare)
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Matsson, L (författare)
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von Zweigbergk, M (författare)
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Holme, I. (författare)
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(creator_code:org_t)
- 1996
- 1996
- Engelska.
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Ingår i: Clinical genetics. - 0009-9163 .- 1399-0004. ; 50:5, s. 375-9
- Relaterad länk:
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https://gup.ub.gu.se...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Abnormalities
- Multiple
- enzymology
- genetics
- physiopathology
- Child
- Female
- Glycerol Kinase
- deficiency
- genetics
- Growth Disorders
- enzymology
- genetics
- physiopathology
- Humans
- Male
- Mental Retardation
- enzymology
- genetics
- physiopathology
- Neurologic Examination
- Ophthalmology
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- MEDICINE
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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