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refsum disease/triglyceride
Sábháiltear an nasc chuig an gearrthaisce
4 torthaí
Transport of phytanic acid on lipoproteins in Refsum disease.
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
Patients with Refsum disease accumulate significant quantities of phytanic acid in adipose and neural tissue. The accumulation can be reversed by following a diet low in phytanic acid, yet the mechanism of transport of this fatty acid is obscure. We investigated the distribution of phytanic acid in
Di-, mono- and nonphytanyl triglycerides in the serum: a sensitive parameter of the phytanic acid accumulation in Refsum's disease.
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
The relative proportions of the diphytanyl, monophytanyl and nonphytanyl triglycerides ("triglyceride pattern"), the phytanic acid content of the triglycerides and the phytanic acid levels in the serum of 3 patients with Refsum's disease (heredopathia atactica polyneuritiformis, phytanic acid
Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
The epidermal metabolic activity of a patient with a marked generalized ichthyosis associated with heredopathia atactica polyneuritiformis has been investigated. Both the in vivo labeling index and the in vitro rates of incorporation of radioactively labeled thymidine, proline, histidine and acetate
[Clinical and biochemical follow up of Refsum's disease (author's transl)].
Ní féidir ach le húsáideoirí cláraithe ailt a aistriú
Logáil Isteach / Cláraigh
Within a family refered here, two sisters are presenting heredopathia atactica polyneuritiformis (Morbus Refsum) with the complete clinical, electromyographical and serological findings (increased phytanic acid level, accumulation of mono- and diphytanyl, triglycerides). In addition, some symptoms
An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht
- Oibreacha i 55 teanga
- Leigheasanna luibhe le tacaíocht ón eolaíocht
- Aitheantas luibheanna de réir íomhá
- Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
- Léigh foilseacháin eolaíochta a bhaineann le do chuardach
- Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
- Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní
Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
* Tá an fhaisnéis uile bunaithe ar thaighde eolaíoch foilsithe
