Results 111 to 120 of about 5,436 (204)

Pulmonary dysfunction in children with Cystinosis: single center study, original article

Egyptian Pediatric Association Gazette, 2022
Background Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin.
Dina H. Hamed, Radwa Mohamed Abdel Halim, Mona Mohsen El Attar, Neveen A. Soliman, Hanan Mohsen Osman   +4 more
doaj   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria [PDF]

Journal of Clinical and Diagnostic Research, 2015
Renal Fanconi syndrome is diagnosed by its cardinal features of glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalaemia, hypophosphatemia and rickets.
Jayashree Kanthila, Smitha Dsa, Kamalakshi G. Bhat   +2 more
doaj   +1 more source

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up [PDF]

, 2002
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure.
CE Kashtan, DS Strayer, GA McDowell, JA Schneider, JA Schneider, LR Charnas, M Town, NA Kir'ianov, R Kleta, RG Oshima, WA Gahl, WA Gahl, WA Gahl   +12 more
core   +3 more sources

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Nature Communications, 2018
Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative ...
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani   +12 more
doaj   +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.
Ballantyne, Angela O., Crowhurst, Jennifer, Hesselink, John, Spilkin, Amy M., Trauner, Doris A., Williams, Jennifer   +5 more
core   +2 more sources

Clinical perspectives on myopathic complications in nephropathic cystinosis

Journal of Rare Diseases
Patients with nephropathic cystinosis are now living into their 50s and beyond thanks to advances in medical management. Due to this shift in the natural history of the disease, monitoring for and addressing extrarenal manifestations, including myopathy,
Reza Sadjadi, Cybele Ghossein, Ewa Elenberg   +2 more
doaj   +1 more source

Nephropathic cystinosis in a Chilean cohort: Clinical and genetic characterization [PDF]

, 2022
Paola Krall, Jean Antoine Grandy Henríquez, Lillian Bolte, Jennie Salgado, Felipe Cavagnaro, Claudia González, J. Luis Guerrero   +6 more
openalex   +1 more source

Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns−/− knockout mouse [PDF]

, 2011
PurposeThe purpose of this study was to assess the ability of quantitative in vivo confocal microscopy to characterize the natural history and detect changes in crystal volume in corneas from a novel animal model of cystinosis, the cystinosin (Ctns ...
Cherqui, Stephanie, Flynn, Kevin, Jester, Brian, Jester, James, Nien, Chyong Jy, Simpson, Jennifer   +5 more
core   +1 more source