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An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7823cb3acc96416b99c699497403480c

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

About this item

Full title

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

Publisher

London: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-360, Article 360

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable insulin has recently been described in syndromic individuals with mosaic genetic activation of post-receptor insulin signalling. We set out t...

Alternative Titles

Full title

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_7823cb3acc96416b99c699497403480c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7823cb3acc96416b99c699497403480c

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-023-02954-5

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