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A neonate with abdominal distension and failure to thrive

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Footnotes

  • Contributors ET and EM contributed equally. ET and EM drafted the initial manuscript. DD, CB, RB and AB contributed to the enrolment of the patient, diagnosis and sample collection. AD performed sphingomyelinase activity dosage. GG performed plasma oxysterols urinary bile acids profile analysis.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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