Results 51 to 60 of about 575 (134)
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
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
Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020 Nonimmunological hydrops fetalis (NIHF) is still a challenging diagnosis. The success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. We report a premature with NIHF. The hydrops panel revealed Noonan syndrome (NS) with a mutation in PTPN11 c.218C>T (p.Thr73Ile).
Mascha Schönfeld +6 more
wiley +1 more source
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis
Nefrología (English Edition), 2015 Objective: Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein ...
Saied Jaradat +5 more
doaj +3 more sources
Ophthalmology and Therapy, 2018 Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
Susmito Biswas +5 more
doaj +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report
BMC Nephrology, 2017 Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi +5 more
doaj +1 more source
Blocking myostatin: muscle mass equals muscle strength?
, 2020 Journal of Cachexia, Sarcopenia and Muscle, Volume 11, Issue 6, Page 1396-1398, December 2020.
Markus S. Anker +2 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2022 Background To date, measurement of intracellular cystine is used for the therapeutic monitoring of patients affected by cystinosis in treatment with cysteamine.
Martina Franzin +6 more
doaj +1 more source
Clinical and Translational Science, Volume 18, Issue 4, April 2025.ABSTRACT Clinical pharmacologists face unique challenges when developing drugs for rare diseases. These conditions are characterized by small patient populations, diverse disease progression patterns, and a limited understanding of underlying pathophysiology.
Mariam A. Ahmed +9 more
wiley +1 more source