Web Images Videos Maps News Shopping Gmail more »
Sign in
Scholar Home  
  Advanced Scholar Search
Scholar Preferences
Scholar Results 1 - 10 of about 101 related to Gogi: Exudative retinopathy in a girl with alstrom syndrome due to a novel mutation. (0.12 sec) 

Exudative retinopathy in a girl with alstrom syndrome due to a novel mutation


D Gogi, J Bond, V Long, E Sheridan, CG … - British Medical Journal, 2007 - bjo.bmj.com
Comment ASOCT is a high-resolution, non-contact method of anterior segment
imaging that uses 1310-nm light. 1 It shows the anatomical rela- tionships of
cornea, iridocorneal angle and other anterior segment structures in real ...
Cited by 3 - Related articles - All 4 versions

Alstrom syndrome with hepatic dysfunction: report of one case.


KW Chang, JW Hou, SJ Lin, MS Kong - Acta paediatrica Taiwanica= Taiwan er ke yi xue hui za … - ncbi.nlm.nih.gov
Alstrom syndrome is a rare autosomal recessive disorder associated with early
childhood retinopathy, progressive sensorineural hearing loss, truncal obesity,
and acanthosis nigricans. We report a 10-year-old boy with Alstrom syndrome ...
Cited by 4 - Related articles - BL Direct - All 4 versions

Alstrom syndrome: Progressive deafness and blindness


LW Welsh - ANNALS OF OTOLOGY RHINOLOGY AND …, 2007 - 万方数据资源系统
Alstrom syndrome is a very rare, genetically transmitted disorder that affects
special sense functions, resulting in progressive visual and auditory
impairment. The diagnostic criteria for this disorder are presented, and ...
Cited by 4 - Related articles - BL Direct - All 4 versions

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in …


E KoÇ, G Bayrak, M Suher, C Ensari, D Aktas, … - Nephrology, 2006 - interscience.wiley.com
SUMMARY: Alstrom syndrome is a rare autosomal recessive disorder characterized
by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes
mellitus and chronic nephropathy. It may be associated with acanthosis ...
Cited by 5 - Related articles - BL Direct - All 3 versions

Alstrom syndrome(OMIM 203800): a case report and literature review


T Joy, H Cao, G Black, R Malik, V Charlton- … - Orphanet Journal of Rare Diseases, 2007 - ojrd.com
We describe the case of a 27-year old female from an English (Caucasian)
kindred. She had been initially referred for hypertriglyceridemia, but
demonstrated other features suggestive of AS, including blindness, obesity, ...
Cited by 4 - Related articles - Cached - All 8 versions

Pars Plana Vitrectomy for Exuduative Retinal Detachment in Coats-Type Retinitis …


SY Lee, YH Yoon - Retina, 2004 - journals.lww.com
A patient with Coats-type retinitis pigmentosa who developed exudative retinal
detachment is described. The patient was treated successfully with pars plana
vitrectomy and silicone oil tamponade. Retinal telan- giectasis resembling ...
Cited by 2 - Related articles - BL Direct - All 3 versions

[CITATION] Correlation of glycosylated hemoglobin measured by affinity vs ion exchange in pediatric …


DB Allen - Diabetes Res Clin Pract, 1991
Cited by 2 - Related articles

[CITATION] International Database of tetrahydrobiopterin deficiencies BIOMBD/BIODEF


N Blau, B Thöny, I Dianzani, 1997
Cited by 2 - Related articles

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients


D Concolino, G Muzzi, M Rapsomaniki, MT … - Journal of Inherited Metabolic Disease - Springer
Summary Deficiency of dihydropteridine reductase causes a variant form of
phenylketonuria associated with a devastating neurological disease characterized
by mental retardation, hypokinesis and other features relating to basal ...
Cited by 2 - Related articles - All 2 versions

Prevalence of diabetes-related autoantibodies in celiac disease


L Laadhar, HM Ben, M Zitouni, M Sellami- … - Annales d'endocrinologie, 2006 - ncbi.nlm.nih.gov
THE AIM: of this study is to investigate the prevalence of diabetes-related
autoantibodies in a group of children with celiac disease and to compare it with
a control group. MATERIAL AND METHODS: We recruited 31 celiac children at ...
Cited by 2 - Related articles - BL Direct


Result Page: 

1

2

3

4

5

6

7

8

9

10

Next


 


Go to Google Home - About Google - About Google Scholar

©2009 Google