Results 51 to 60 of about 1,618 (169)
Human Pathology Reports, 2022 We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen +8 more
doaj +1 more source
Acta Ophthalmologica, Volume 99, Issue 2, Page e189-e195, March 2021., 2021 Abstract Purpose The purpose of the present study was to establish a semi‐automated threshold‐based image segmentation algorithm to detect and objectively quantify corneal cystine crystal deposition in ocular cystinosis with anterior segment optical coherence tomography (AS‐OCT).
Leonie Keidel +27 more
wiley +1 more source
Clinical Genetics, Volume 99, Issue 2, Page 236-249, February 2021., 2021 Abstract Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next‐generation sequencing gene panel including 203 genes associated with kidney disease, as
Jiyoung Oh +5 more
wiley +1 more source
Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients [PDF]
, 2022 Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body.
Ariceta Iraola, Gema +14 more
core +5 more sources
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives [PDF]
, 2022 Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased ...
Canalini F. +9 more
core +1 more source
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]
, 2019 Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh +32 more
core +3 more sources
Tactile recognition in infantile nephropathy cystinosis [PDF]
Developmental Medicine & Child Neurology, 1997 Previous studies have demonstrated that individuals with cystinosis, an inherited metabolic disorder, have difficulty processing visual information, and may be selectively impaired in the ability to mentally rotate figures, despite having normal IQs and normal primary sensory function.
S, Colah, D A, Trauner
openaire +2 more sources
, 2009 Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause
Castro, I, Neves, R
core +1 more source
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [PDF]
, 2015 We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis ...
A Haschemi +24 more
core +4 more sources
Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation
Indian Journal of Pathology and Microbiology, 2019 Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai +4 more
doaj +1 more source