chondrodysplasia punctata/arginine

Sábháiltear an nasc chuig an gearrthaisce

AiltTrialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

4 torthaí

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

The case of a Yemeni girl with isolated peroxisomal acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) deficiency is reported. She had rhizomelic chondrodysplasia punctata, microcephaly, failure to thrive, delayed motor and mental development, and spastic quadriplegia. Deficient de novo

Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Mutations in the arylsulfatase E gene, located on the X chromosome, have been shown to cause chondrodysplasia punctata (CDP). A substitution of arginine with serine at amino acid 12 (R12S) was identified in a patient with typical features of mild symmetrical CDP including mild mental retardation.

The crucial step in ether phospholipid biosynthesis: structural basis of a noncanonical reaction associated with a peroxisomal disorder.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Ether phospholipids are essential constituents of eukaryotic cell membranes. Rhizomelic chondrodysplasia punctata type 3 is a severe peroxisomal disorder caused by inborn deficiency of alkyldihydroxyacetonephosphate synthase (ADPS). The enzyme carries out the most characteristic step in ether

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Peroxisomes play an indispensible role in ether lipid biosynthesis as evidenced by the deficiency of ether phospholipids in fibroblasts and tissues from patients suffering from a number of peroxisomal disorders. Alkyl-dihydroxyacetonephosphate synthase, a peroxisomal enzyme playing a key role in the

Bí ar ár
leathanach facebook

Herbal & Natural Medicine

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