Neonatal hypophosphatasia: a case report of a rare genetic disorder

Our case highlights the significance of astute clinical observation, imaging studies, and biochemical assessments in unveiling this rare disorder. Early identification through a systematic approach allows for timely initiation of treatment, potentially ameliorating outcomes. By elucidating the disease's symptoms, this case contributes to a better understanding of its natural history, emphasizing the imperative for early intervention to enhance patient prognosis.

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Publication Details

Journal
BMC Pediatrics
Published
2025-10-22
DOI
https://doi.org/10.1186/s12887-025-05876-2
Primary Topic
Alkaline Phosphatase Research Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Neonatal hypophosphatasia: a case report of a rare genetic disorder

Navin Chohan, Wasif Ilyas Vohra, Adnan Mirza
BMC Pediatrics
Alkaline Phosphatase Research Studies
article

Neonatal hypophosphatasia: a case report of a rare genetic disorder

Navin Chohan, Wasif Ilyas Vohra, Adnan Mirza
article en

Abstract

Our case highlights the significance of astute clinical observation, imaging studies, and biochemical assessments in unveiling this rare disorder. Early identification through a systematic approach allows for timely initiation of treatment, potentially ameliorating outcomes. By elucidating the disease's symptoms, this case contributes to a better understanding of its natural history, emphasizing the imperative for early intervention to enhance patient prognosis.

BMC PediatricsVol. 25(1)
Aga Khan University Hospital (PK)
Openalex Percentile: Top 60%
Alkaline Phosphatase Research Studies
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Neonatal hypophosphatasia: a case report of a rare genetic disorder — Navin Chohan, Wasif Ilyas Vohra, et al. · BMC Pediatrics (2025) | TGRS Research Map | TGRS