retinal dysplasia/bodhaire

Sábháiltear an nasc chuig an gearrthaisce

AiltTrialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

4 torthaí

Renal retinal dysplasia with diffuse glomerular cysts.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

A 32-year-old male with renal retinal dysplasia is presented. He also showed hearing loss and growth retardation. Laboratory data showed mild proteinuria, renal dysfunction and type-1 renal tubular acidosis. Computed tomography showed multiple cysts at the corticomedullary junction of both kidneys.

Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by beta-glucuronidase (GUSB) deficiency. This disease exhibits a broad spectrum of clinical signs including skeletal dysplasia, retinal degeneration, cognitive deficits and hearing impairment. Sustained, high-level

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

A large Costa Rican kindred has been identified with 15 males affected with congenital blindness, progressive bearing loss, and venous insufficiency. Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural

A genetic linkage study of a family with Norrie's disease.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

A family having one member with Norrie's disease, X-linked retinal dysplasia associated with hearing loss and mental retardation, was studied using DNA markers. The DNA markers were used to try and confirm the diagnosis of Norrie's disease by detecting a deletion of the X chromosome. Linkage

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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