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Published in 2017 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13611
Abstract: homozygous for a known TNSALP gene mutation. She had persistent hypercalcaemia, failure to thrive and at 3 months developed severe bronchiolitis requiring intubation and ventilation for 2 weeks. Following reports of dramatic improvements in mineralization…
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Keywords:
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