WA Gahl, EM Kuehl, F Iwata, A Lindblad, MI … - Molecular genetics and metabolism, 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. ... Cited by 46 - Related articles - BL Direct - All 4 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
MB Gorin - Seminars in Ophthalmology, 1995 - informahealthcare.com SURGICAL MANAGEMENT OF OCULAR GENETIC DISORDERS For a number of genetic
disorders, ocular surgery is well established and the treatment of choice. There
is a considerable amount of literature addressing surgical methods for rou- ... Related articles - All 4 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
O LTHOUGH - Seminars in Ophthalmology, 1995 - Informa Pharma Science SURGICAL MANAGEMENT OF OCULAR GENETIC DISORDERS For a number of genetic
disorders, ocular surgery is well established and the treatment of choice. There
is a considerable amount of literature addressing surgical methods for rou- ... Related articles
M Broyer - Néphrologie(Genève), 2000 - cat.inist.fr La cystinose infantile est une maladie métabolique liée à l'accumulation de
cystine dans les lysosomes de la plupart des cellules de l'organisme. Elle se
manifeste à partir de l'âge de 5 à 6 mois par une anorexie, des ... Related articles - All 3 versions
M Broyer - Néphrologie, 2000 - nephro01.mps-hostingfr.com La cystinose est une maladie métabolique récessive caractéri- sée par
l'accumulation de cystine dans les lysozomes de tous les tissus, ce qui conduit
à une perturbation du fonctionnement cel- lulaire dans la plupart des ... Related articles - All 3 versions
MM von Ursula, S Dohrmann - onjoph.com Bei der Cystinose handelt es sich um eine seltene, autosomal rezessiv vererbte
Erkrankung des Aminosäuren-Stoffwechsels. Sie kommt in Deutschland etwa bei
einem von 179.000 Menschen vor. Dabei besteht ein Defekt im ... Related articles - View as HTML