Results 51 to 60 of about 48,474 (154)

Infantile Nephropathic Cystinosis Presenting as Bartter-like Syndrome in Infancy: A Case Report with CTNS Gene Variant [PDF]

Journal of Clinical and Diagnostic Research
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, leading to cystine accumulation and multiorgan involvement.
Elakeya Elumalai Saraswaty, Shivaashankari Dharmalingam, Shanmugam Muthukrishnan, Ajay Subramanian   +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, Shibu Jacob, Mandeep S Bindra, Vinoi George David, Santosh Varughese   +4 more
doaj   +1 more source

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. [PDF]

Hum Genome Var, 2017
Nephropathic cystinosis is an inherited lysosomal transport disorder caused by mutations in the CTNS gene that encodes for a lysosomal membrane transporter, cystinosin.
Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.   +3 more
europepmc   +2 more sources

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia

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, Mareike Selig, Alexandra Russo, Christine Lindner, Christoph Kampmann, Eva Mildenberger, Catharina Whybra   +6 more
wiley   +1 more source

Neurological impairment in nephropathic cystinosis: motor coordination deficits [PDF]

, 2010
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein.
John Hesselink, Crowhurst, Jennifer, Doris A. Trauner, Jennifer Crowhurst, Ballantyne, Angela O., Angela O. Ballantyne, Amy M. Spilkin, Jennifer Williams, Trauner, Doris A., Williams, Jennifer, Spilkin, Amy M., Hesselink, John   +11 more
core   +1 more source

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

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, Martha Gaviria, Luísa Malheiro, João Pedro Marques, Vincenzo Giordano, Hong Liang   +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, Renee Kinkade, Gary Royal, Todd Zankel   +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, Stephan von Haehling, Jochen Springer   +2 more
wiley   +1 more source

Swallowing dysfunction in patients with nephropathic cystinosis [PDF]

, 2019
Contains fulltext : 204247.pdf (Publisher’s version ) (Open Access)INTRODUCTION: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene.
Rijssel, A.E. van, Janssen, M.C.H., Levtchenko, E.N., Knuijt, S., Veys, K.   +4 more
core   +1 more source

A new proof of evidence of cysteamine quantification for therapeutic drug monitoring in patients with cystinosis

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, Silvia Rossetto, Rachele Ruoso, Rossella Del Savio, Gabriele Stocco, Giuliana Decorti, Riccardo Addobbati   +6 more
doaj   +1 more source