R Kleta, WA Gahl - eop, 2004 - informahealthcare.com Cystinosis, clinically recognised since 1903, is an autosomal recessive lyso-
somal storage disease caused by mutations in CTNS. This gene codes for a
lysosomal cystine transporter, whose absence leads to intracellular cystine ... Cited by 23 - Related articles - All 5 versions
- ►jbc.org SC Chai, JR Bruyere, MJ Maroney - Journal of Biological Chemistry, 2006 - ASBMB The first major step of cysteine catabolism, the oxidation of cysteine to
cysteine sulfinic acid, is catalyzed by cysteine dioxygenase (CDO). In the
present work, we utilize recombinant rat liver CDO and cysteine derivatives ... Cited by 12 - Related articles - BL Direct - All 8 versions
- ►nih.gov E Tsilou, M Zhou, W Gahl, PC Sieving, CC … - Survey of ophthalmology, 2007 - Elsevier Cystinosis is a rare autosomal recessive metabolic disorder characterized by the
intracellular accumulation of cystine, the disulfide of the amino acid cysteine,
in many organs and tissues. Infantile nephropathic cystinosis is the most ... Cited by 4 - Related articles - All 13 versions
A Emadi, KH Burns, B Confer, MJ Borowitz, MB … - Acta Haematol, 2008 - content.karger.com Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal
storage disease. We describe a 34-year-old patient with nephropathic cystinosis
with multisystem involvement who developed progressive bone marrow failure ... Related articles - All 5 versions
S Bozdağ, K Gümüş, Ö Gümüş, N Ünlü - European Journal of Pharmaceutics and …, 2008 - Elsevier In the present study, viscous solutions of cysteamine hydrochloride (CH) were
prepared by using 0.5%, 1.0%, 1.5% or 3.0% of hydroxypropylmethylcellulose
(HPMC) and were evaluated for their in-vitro characteristics and stability. ... Related articles - All 2 versions
N Kitnarong, P Osuwannaratana, W … - J Med Assoc Thai, 2005 - medassocthai.org Correspondence to : Kitnarong N, Department of Ophthal- mology, Faculty of
Medicine, Siriraj Hospital, Mahidol University, 2 Prannok, Bangkok Noi, Bangkok
11000, Thailand. Phone: 0-2419-8033, Fax: 0-2411-1906, E-mail: ... Related articles - View as HTML - All 5 versions
R Tavares, D Coelho, MC Macário, A Torres, … - Cornea, 2009 - journals.lww.com Methods: A 20-year-old woman with infantile cystinosis, with a history of kidney
transplantation at age 10, was studied. She applied cysteamine eyedrops
(0.1136%) 10 times a day (a new formulation, now stable at room temperature ... Related articles - All 3 versions
WA Gahl - Springer Nephropathic cystinosis (1–3) deserves a special place in the annals of
clinical medicine as the first treatable lysosom- al storage disease. The
pathophysiology itself, based upon the formation of cystine crystals within ... Related articles