Results 71 to 80 of about 3,344 (169)

11 | Human immortalized myoblasts/induced pluripotent stem cell derived skeletal muscle model to investigate cystinosis myopathy

European Journal of Translational Myology
Cystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
doaj  

Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Cystinosis [PDF]

Archives of Disease in Childhood, 1952
openaire   +2 more sources

Infantile Cystinosis

Archives of Pathology & Laboratory Medicine, 2005
Dinesh, Rakheja, Dennis C, Wooten, Ana M, Gomez   +2 more
openaire   +2 more sources

A patient with cystinosis presenting transient features of Bartter syndrome

The Turkish Journal of Pediatrics, 2006
A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz, Sultan Durmuş-Aydoğdu, Nurdan Kural, Kismet Bildirici, Hikmet Başmak, Coşkun Yarar   +5 more
doaj  

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

Cystinosin regulates Na⁺/H⁺ exchanger 3 trafficking and function in kidney proximal tubular cells. [PDF]

EMBO Rep
Khare V, Farré JC, Ait Kbaich M, Rocca CJ, Tang C, Ma X, Biederman K, Mathur I, Badell-Grau RA, Sivakumar A, Chen R, Catz SD, Cherqui S.   +12 more
europepmc   +1 more source

Hematopoietic Stem-Cell Gene Therapy for Cystinosis. [PDF]

N Engl J Med
Barshop BA, Ball ED, Benador N, Trauner D, Phillips S, Dohil R, Afshari NA, Roy S, Campo Fernandes B, Kohn D, Shayan K, Everett JK, Bushman FD, Midgley J, Liang H, Sawyers A, Gangoiti JA, Panchal M, Ahmed I, Cherqui S.   +19 more
europepmc   +1 more source

Advances in Pharmacological Treatments for Cystinosis: Cysteamine and Its Alternatives. [PDF]

ACS Pharmacol Transl Sci
Carneiro A, Jones DH.
europepmc   +1 more source