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

Genetic Diagnosis of Rare Diseases: Past and Present.

Advances in therapy - 1 May 2020

Ramos-Fuentes Feliciano, González-Meneses Antonio, Ars Elisabet, Hernández-Jaras Julio

Abstract excerpt

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritance pattern), laboratory tests and image studies, but diagnosis can be delayed several years after the initiation of...

Read the complete abstract on PubMed

Topics

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

Share to Familial Hypophosphatemic Rickets
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Molecular Biology

Share to Rare Diseases

Source

Identifiers

PMID: 32236876
DOI: 10.1007/s12325-019-01176-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Diagnosis of Rare Diseases: Past and Present.PMID 32236876Read ↗

Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment.Semantic proximity Read ↗

Alport syndrome: facts and opinionsSemantic proximity Read ↗

Genetics of Skeletal Disorders.Semantic proximity Read ↗

Clinical research challenges in rare genetic diseases in BrazilSemantic proximity Read ↗

Hereditary Rickets: A Quick Guide for the Pediatrician.Semantic proximity Read ↗

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.Semantic proximity Read ↗

Genetic and Metabolic Conditions.Semantic proximity Read ↗

Clinical genetics: an overview.Semantic proximity Read ↗

Hereditary rickets. How genetic alterations explain the biochemical and clinical phenotypes.Semantic proximity Read ↗

New perspectives on the biology and treatment of X-linked hypophosphatemic rickets.Semantic proximity Read ↗

Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH)Semantic proximity Read ↗

Genetic Disorders With Symptoms Mimicking Rheumatologic Diseases: A Single-Center Retrospective StudySemantic proximity Read ↗

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