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Emma Porter
Emma Porter

Public Documents 2
Think zinc: transient nutritional deficiency related to novel maternal SLC30A2 mutati...
Emma Porter
Oonagh Molloy

Emma Porter

and 3 more

January 11, 2023
We present a case of a second-born breastfed infant presenting with zinc deficiency whose mother was found to have a novel heterozygous mutation in SLC30A2. A previous baby did not have manifestations of zinc deficiency but the mother had taken a proton pump inhibitor during the second pregnancy.
Congenital urticaria pigmentosa mistaken for non-accidental injury
Emma Porter
Cynthia Heffron

Emma Porter

and 3 more

December 09, 2022
Awareness of cutaneous manifestations of non-accidental injury (NAI) is essential for healthcare professionals working with children. Some cutaneous conditions may present with bruise-like lesions that can mimic NAI. We present the case of a male infant referred for investigation of NAI, who was subsequently diagnosed with cutaneous mastocytosis.

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