Results 91 to 100 of about 48,474 (154)

Nephropathic cystinosis in children: An overlooked disease

, 2009
Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children ...
Bazaraa Hafez, Rizk Akmal, El-Baroudy Ramzi, Soliman Neveen, Younan Amal   +4 more
core  

Cysteamin eyedrops in three patients with nephropathic cystinosis

, 1996
Cysteamin-PO4 eyedrops 5 mMol/l, given to three patients with nephropathic cystinosis brought a great relief from their photophobia and in two of the three patients a measurable decrease in the glare was ...
Jansonius, NM, ReitsmaBierens, WCC, Reitsma-Bierens, W.C.C., Blanksma, L.J., Blanksma, LJ, Jansonius, N.M., Jansonius, N.M.; id_orcid   +6 more
core   +1 more source

Nephropathic Cystinosis Mimicking Bartter Syndrome A Novel Mutation

, 2018
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene.
Korkmaz, Emine, ÖZALTIN, FATİH, Yel, Sibel, Nalcacioglu, Hulya, Bastug, Funda   +4 more
core  

Nephropathic infantile cystinosis [PDF]

, 2020
openaire   +1 more source

Hypothesis: Taurine therapy of nephropathic cystinosis may correct the deficiencies of cysteamine therapy

Untreated nephropathic cystinosis is a lethal autosomal recessive disease. The current specific therapy, cysteamine, ameliorates the renal function loss, but does not alter the renal Fanconi syndrome, short stature, muscle weakness, male infertility, and
Jess G. Thoene
core   +1 more source

Unlocking Growth: Muscle-Bone Interactions in Cystinosis. [PDF]

Kidney360
Salcedo-Giraldo J, Gulati A.
europepmc   +1 more source

From Cysteamine to Pepstatin A: Targeting Cathepsin D To Improve Bone Health in Cystinosis. [PDF]

Int J Biol Sci
Battafarano G, Rossi M, Pagliarosi O, Di Giuseppe L, Di Gregorio J, Terreri S, De Stefanis C, Pezzullo M, Di Giovamberardino G, Vernocchi P, Marzano V, Putignani L, D'Amico J, Piemonte F, Taranta A, Emma F, Del Fattore A.   +16 more
europepmc   +1 more source

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India. [PDF]

Child Kidney Dis
K P L, Rahman RK, Remesh P, Anand M, Jayadevan N, Pachat D.   +5 more
europepmc   +1 more source

Successful Surgical Sperm Extraction in a Patient With Cystinosis. [PDF]

Cureus
Wald M.
europepmc   +1 more source

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia. [PDF]

BMC Genom Data
Sahli C, Mabrouk S, Jemmeli N, Nouir S, Ltaifa R, Messaoud T, Abdennebi HB, Ferchichi S, Ghorbel M, Laradi S, Chkioua L.   +10 more
europepmc   +1 more source