WA Gahl, JG Thoene, JA Schneider, S O' … - Annals of internal …, 1988 - Am Coll Physicians Add to CiteULike Add to Complore Add to Connotea Add to Del.icio.us Add to Digg Add to Facebook
Add to Reddit Add to Technorati Add to Twitter What's this? ... Objective: To review the
history, basic defect, pathogenesis, clinical manifestations, diagnosis, and treatment of ... Cited by 25 - Related articles - All 4 versions
RE Reiss, T Kuwabara, ML Smith, WA … - New England Journal of …, 1988 - content.nejm.org Original Article from The New England Journal of Medicine -- Successful pregnancy despite
placental cystine crystals in a woman with nephropathic cystinosis.
Cited by 17 - Related articles - All 3 versions
GK Yamamoto, JD Schulman, JA Schneider, VG … - Journal of pediatric … - ncbi.nlm.nih.gov Following renal transplantation in nephropathic cystinosis, an extension of retinopathy associated
with a variety of subtle functional ocular abnormalities may occur. However, these abnormalities
have not (except for photophobia) been of subjective significance to cystinotic patients. ... Cited by 12 - Related articles
AJ Jonas, SB Conley, R Marshall, RA Johnson, M … - The American journal of …, 1987 - Elsevier Nephropathic cystinosis is associated with end-stage renal failure, retinal damage, and
hypothyroidism. Patients may now survive past the first decade of life with the use of dialysis
and renal transplantation. Examination of a 24-year-old woman with this disorder ... Cited by 48 - Related articles - All 4 versions
VA Da Silva, RP Zurbrugg, P Lavanchy, A … - The New England journal …, 1985 - cat.inist.fr Long-term treatment of infantile nephropathic cystinosis with cysteamine. VA DA
SILVA, RP ZURBRUGG, P LAVANCHY, A BLUMBERG, H SUTER, SR WYSS, CM
LUTHY, OH OETLIKER The New England journal of medicine ... Cited by 22 - Related articles - All 3 versions
WA Gahl, VS Hubbard, S Orloff - The Journal of pediatrics, 1984 - Elsevier 9 0 4 Clinical attd laboratory observations The Journal of PediatricsJune 1984Patient I was given
dual therapy for 16 days, and suffered relapse after treatment was stopped. The optimal duration
ofcombined antifungal treatment of Candida meningitis is not known at present, but 4 to 8 ... Cited by 13 - Related articles - All 3 versions
JL Dufier, P Dhermy, MC Gubler, MF … - Ophthalmic …, 1987 - informahealthcare.com Ocular changes in long-term evolution of infantile ... J. L. DUFIER', P. DHERMY4, MC
GUBLER2, M. E GAGNADOUX3 and M. BROYER3 ... Consultation d'Ophtalmologie - Htipital
Laennec, 42 rue de SPvres, 75007 Paris; 2Htipital Necker-Edants-Malades - INSERM U ... Cited by 24 - Related articles - All 5 versions
ML Smith, OL Pellett, MM Cass, NG Kennaway, … - Prenat …, 1987 - interscience.wiley.com The prenatal diagnosis of cystinosis is currently based on the increased amount of free-cystine
present in amniotic fluid cells. Amniocyte cultures must be grown for at least 2 weeks to obtain
sufficient cells for such measurements. Thus, the diagnosis cannot be made until close to ... Cited by 15 - Related articles - All 3 versions
WA Gahl, EM Kuehl, F Iwata, A Lindblad, MI Kaiser- … - Molecular genetics and …, 2000 - Elsevier Although renal disease is the most prominent feature of the lysosomal storage disease
cystinosis, corneal cystine crystal formation remains a major complication, leading to
photophobia, corneal erosions, and keratopathies. Moreover, the extent of corneal crystal ... Cited by 46 - Related articles - BL Direct - All 4 versions
AW Lucky, PM Howley, K Megyesi, SP Spielberg, JD … - The Journal of Pediatrics, 1977 - Elsevier Children with nephropathic cystinosis exhibit marked growth retardation. Improved medical management
and renal transplantation have increased their life expectancy beyond the second decade. We
have studied endocrine function in seven patients with cystinosis and reviewed autopsy ... Cited by 26 - Related articles - All 3 versions
