Neonatal hypophosphatasia: a case report of a rare genetic disorder.

Abstract excerpt

BACKGROUND: Neonatal Hypophosphatasia is a rare condition attributed to loss of function mutations in the ALPL gene, resulting in diminished activity of Tissue Non-Specific Alkaline Phosphatase (TNSALP). While it can manifest at various life stages, neonatal onset is particularly ominous, often leading to fatal outcomes. The syndrome's diverse clinical manifestations pose a diagnostic challenge, necessitating a...

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