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Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency

Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagn...

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Xehetasun bibliografikoak
Argitaratua izan da:BMJ Case Rep
Egile Nagusiak: Ediger, Krystyna, Hicks, Anne, Siriwardena, Komudi, Joynt, Chloe
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Publishing Group 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8016098/
https://ncbi.nlm.nih.gov/pubmed/33789861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-241032
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