-
different symptoms:
nephropathic cystinosis,
intermediate cystinosis, and non-
nephropathic or
ocular cystinosis.
Infants affected by
nephropathic cystinosis initially...
-
Fanconi syndrome or Fanconi's
syndrome (English: /fɑːnˈkoʊni/, /fæn-/) is a
syndrome of
inadequate reabsorption in the
proximal renal tubules of the kidney...
-
neurological complications of
encephalopathy and
myopathy in a
patient with
nephropathic cystinosis: a case
report and
review of the literature". J Med Case Rep...
- CTNSK280R are
related to
juvenile nephropathic cystinosis while CTNSN288K
mutations are
found in
cases with
infantile nephropathic cystinosis. The gene is expressed...
- alfa-mannosidosis, an ultra-rare condition.
Chiesi is also
present in
nephropathic cystinosis and is
developing a new
product in
Fabry disease. In July...
-
Peter G.; McHugh,
Katharine M.; Fincham, John E. (2010). "Contrasting
Nephropathic Responses to Oral
Administration of
Extract of
Cultured Penicillium poloni****...
- 2015). "Inhibition of
intracellular clusterin attenuates cell
death in
nephropathic cystinosis".
Journal of the
American Society of Nephrology. 26 (3): 612–25...
- Gahl WA,
Green ED (Mar 2000). "The
genomic region encomp****ing the
nephropathic cystinosis gene (CTNS):
complete sequencing of a 200-kb
segment and discovery...
- Y,
Dietrich NL, et al. (2000). "The
genomic region encomp****ing the
nephropathic cystinosis gene (CTNS):
complete sequencing of a 200-kb
segment and discovery...
- Bernardini, I., Gahl, W.A.
Swallowing dysfunction in 101
patients with
nephropathic cystinosis:
Benefit of long-term
cysteamine therapy. Medicine, 84:137-146...
