Results 51 to 60 of about 1,339 (134)
Anaesthetic management of a child with cystinosis
Egyptian Journal of Anaesthesia, 2017 Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma +3 more
doaj +1 more source
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
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
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
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
First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis
The Scientific World Journal, Volume 2015, Issue 1, 2015., 2015 Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However,
Yong-jia Yang +11 more
wiley +1 more source
International Journal of Endocrinology, Volume 2014, Issue 1, 2014., 2014 Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case‐studies and case‐series we focused on the pathophysiological and clinical implications of glucocorticoid‐related, mineralcorticoid‐related, and catecholamine‐related paediatric nervous system ...
Vincenzo Salpietro +9 more
wiley +1 more source