[Pulmonary phenotypes of inborn errors of metabolism].

doi:10.1016/j.rmr.2022.09.002

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

Back to search

Article

[Pulmonary phenotypes of inborn errors of metabolism].

Revue des maladies respiratoires - 1 Nov 2022

Mauhin W, Brassier A, London J, Subran B, Zeggane A, Besset Q, Jammal C, Montardi C, Mellot C, Strauss C, Borie R, Lidove O

Abstract excerpt

Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechanisms. In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease),...

Topics

Humans
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors
Phenotype
Metabolic Diseases

Source

Open in PubMed

Identifiers

PMID: 36229356
DOI: 10.1016/j.rmr.2022.09.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

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

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics