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

[Expert consensus for diagnosis and treatment of Fabry disease in China (2021)].

Zhonghua nei ke za zhi - 1 Apr 2021

Abstract excerpt

Fabry disease is a rare X-linked genetic lysosomal storage disorder caused by mutations in the GLA gene, which results of reduced or absent activity of α-galactosidase A, accumulation of metabolic substrates globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosylsphingosine (Lyso-GL-3) in multiple tissues, and multi-organ diseases and even life-threatening complications. Due to the lack...

Topics

Asian People
China
Consensus
Fabry Disease
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33765701
DOI: 10.3760/cma.j.cn112138-20201218-01028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Expert consensus for diagnosis and treatment of Fabry disease in China (2021)].PMID 33765701Read ↗

[Multidisciplinary treatment in the long-term management of Fabry disease].Semantic proximity Read ↗

Diagnosis and Management of Fabry Disease in High-Risk Renal Disease Patients in Taiwan: A Single Center Study.Semantic proximity Read ↗

Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.Semantic proximity Read ↗

Fabry disease: Mechanism and therapeutics strategiesSemantic proximity Read ↗

Fabry disease revisited: Management and treatment recommendations for adult patientsSemantic proximity Read ↗

Precision medicine in Fabry disease.Semantic proximity Read ↗

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in PolandSemantic proximity Read ↗

Fabry disease cardiomyopathy: A state-of-the-art review.Semantic proximity Read ↗

Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.Semantic proximity Read ↗

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.Semantic proximity Read ↗

Impact of ER stress and the unfolded protein response on Fabry diseaseSemantic proximity Read ↗

Fabry Disease and Its Different Phenotypes.Semantic proximity Read ↗

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