Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of biosciences - 1 Jan 2023

Vashist Nikita, Deshpande Anup Arunrao, Kanakaraj Armugham, Ravichandran Rajan, Bachhawat Anand K

Abstract excerpt

Cystinosis is an autosomally inherited rare genetic disorder in which cystine accumulates in the lysosome. The defect arises from a mutation in the lysosomal efflux pump, cystinosin (or CTNS). Despite the disease being known for more than a century, research, diagnosis, and treatment in India have been very minimal. In recent years, however, some research on cystinosis has been carried out on understanding the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystine
Share to Cystinosis
Share to India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Source

Identifiers

PMID: 38018544

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cystinosis: Status of research and treatment in India and the world.PMID 38018544Read ↗

Cystinosis.Semantic proximity Read ↗

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for RepairSemantic proximity Read ↗

Nephropathic cystinosis: an update on genetic conditioning.Semantic proximity Read ↗

Cystinosis and two rare mutations in CTNS gene: two case reports.Semantic proximity Read ↗

An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.Semantic proximity Read ↗

Cystinosis induced by CTNS gene mutation: a rare disease study.Semantic proximity Read ↗

Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case reportSemantic proximity Read ↗

Uncovering the Prevalence of Cystinosis through Genetic AnalysisSemantic proximity Read ↗

Phenotypic variability in cystinosis: Lessons from an atypical case.Semantic proximity Read ↗

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-BedsideSemantic proximity Read ↗

Cystinosis.Semantic proximity Read ↗

Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.