Search Results

Cystinosis — a review of disease pathogenesis, management, and future treatment options.

• Authors : Devitt, Lauren

Subjects: CYSTINOSIS; PATHOGENESIS; LYSOSOMES

• Source: Journal of Rare Diseases; 6/10/2024, Vol. 3 Issue 1, p1-12, 12p

Record details

Unveiling cystinosis in India.

• Authors : Heroor, Aniruddh; Verma, Anshuman; Achanta, Divya Sree

Subjects: CYSTINOSIS; OPTICAL coherence tomography; CONFOCAL microscopyINDIA

• Source: Journal of Rare Diseases; 6/25/2024, Vol. 3 Issue 1, p1-12, 12p

Record details

Hematological involvement in nephropathic cystinosis: new insights.

• Authors : El-Ghamrawy, Mona; Soliman, Neveen A.

Subjects: HEMATOLOGY; CYSTINOSIS; QUALITY of life

• Source: Journal of Rare Diseases; 9/2/2024, Vol. 3 Issue 1, p1-12, 12p

Record details

Intermediate type cystinosis with a novel CTNS variant in a child: a case report.

• Authors : Elamin, Mugahid; Alzhrany, Ghada; Mohamed, Reem

Subjects: GENETIC testing; TEENAGE girls; GENETIC variation

• Source: Journal of Rare Diseases; 9/13/2024, Vol. 3 Issue 1, p1-5, 5p

Record details

Adult complications of nephropathic cystinosis: a systematic review.

• Authors : Kasimer, Rachel Nora; Langman, Craig B

Subjects: DIABETES; HYPOTHYROIDISM; KIDNEY transplantation

• Source: Pediatric Nephrology. 2021, Vol. 36 Issue 2, p223-236. 14p. 1 Diagram, 7 Graphs.

Record details

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

• Authors : Helmy, Rasha; Mahmoud, Rasha Selim; Elmonem, Mohamed A.

Subjects: CHILDREN'S hospitals; LYSOSOMAL storage diseases; AGE groups

• Source: Egyptian Pediatric Association Gazette; 9/27/2024, Vol. 72 Issue 1, p1-10, 10p

Record details

The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study.

• Authors : Bjerre, Anna; Aase, Sonja Amdal; Radtke, Maria

Subjects: SULFUR compounds; DRUG efficacy; GLOMERULAR filtration rateNORWAY

• Source: Pediatric Nephrology. Nov2023, Vol. 38 Issue 11, p3671-3679. 9p. 1 Chart, 4 Graphs.

Record details

Cystinosis: Status of research and treatment in India and the world.

• Authors : Vashist, Nikita; Deshpande, Anup Arunrao; Kanakaraj, Armugham

• Source: Journal of Biosciences; Dec2023, Vol. 48 Issue 4, p1-11, 11p

Record details

Nephropathic cystinosis: an update on genetic conditioning.

• Authors : Topaloglu, Rezan

Subjects: HEALTH services accessibility; GENETIC mutation; HEALTH status indicators

• Source: Pediatric Nephrology. Jun2021, Vol. 36 Issue 6, p1347-1352. 6p. 2 Color Photographs, 2 Graphs.

Record details

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

• Authors : Kleta, Robert¹; Kaskel, Frederick²; Dohil, Ranjan³

Subjects: *CONFERENCES & conventions; *CYSTINOSIS; *PEDIATRIC nephrology diagnosis

• Source: Pediatric Nephrology. Apr2005, Vol. 20 Issue 4, p452-454. 3p.

Record details