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Article

Disease Status at Diagnosis in Danish Children with α 1 -antitrypsin Deficiency.

Journal of pediatric gastroenterology and nutrition - 1 Nov 2022

Winther Christina Louise, Nyrann Sofie, Nielsen Rasmus Gaardskaer, Duno Morten, Johansen Klaus Birkelund, Helt Thora Wesenberg, Brix Christensen Vibeke

Abstract excerpt

OBJECTIVES: The aim of this cross-sectional study was to assess the state of disease at the time of diagnosis in Danish children with α 1 -antitrypsin deficiency as Denmark has a high prevalence of ZZ-homozygosity. METHODS: Children either heterozygous, compound heterozygous, or homozygous for Z- and S-variants in the SERPINA1 -gene were included. Clinical characteristics, SERPINA1 -genotype, and blood serum (S)...

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Identifiers

PMID: 36070551
DOI: 10.1097/MPG.0000000000003604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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