Log in to save to my catalogue

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a cas...

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a cas...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fe6f064b25ff428c9aa0a48423470861

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report

About this item

Full title

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report

Publisher

England: BioMed Central Ltd

Journal title

Journal of medical case reports, 2021-02, Vol.15 (1), p.54-54, Article 54

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Pulmonary surfactant is a complex mixture of lipids and specific proteins that stabilizes the alveoli at the end of expiration. Mutations in the gene coding for the triphosphate binding cassette transporter A3 (ABCA3), which facilitates the transfer of lipids to lamellar bodies, constitute the most frequent genetic cause of severe neonatal respirat...

Alternative Titles

Full title

Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_fe6f064b25ff428c9aa0a48423470861

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fe6f064b25ff428c9aa0a48423470861

Other Identifiers

ISSN

1752-1947

E-ISSN

1752-1947

DOI

10.1186/s13256-020-02604-5

How to access this item