ReviewMedicine2018
Neonatal lethal hypophosphatasia: A case report and review of literature.
Review in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia.Case reports in endocrinology · 2025Article
- Genetic causes of neonatal and infantile hypercalcaemia.Pediatric nephrology (Berlin, Germany) · 2022Review
- Correlation between Alkaline Phosphatase and Neonatal Jaundice.Medical journal of the Islamic Republic of Iran · 2022Article
- Hypophosphatasia.Journal of clinical medicine · 2021Review
- Hypophosphatasia: A Unique Disorder of Bone Mineralization.International journal of molecular sciences · 2021Review
- Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders.Current osteoporosis reports · 2020Review
- Hypophosphatasia: Current Literature for Pathophysiology, Clinical Manifestations, Diagnosis, and Treatment.Cureus · 2020Review
- Cellular and extracellular matrix of bone, with principles of synthesis and dependency of mineral deposition on cell membrane transport.American journal of physiology. Cell physiology · 2020Review
- Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice.Advances in experimental medicine and biology · 2019Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleHypophosphatasia (HPP) is a very rare metabolic bone disease caused by loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase. The severe neonatal form is considered lethal but insights into manifestations of the disease can help to increase our knowledge of the natural history for an early initiation of treatment and improvement of survival. PATIENT CONCERNS: We report the case of a newborn in which his fetal imaging showed findings of skeletal dysplasia disorder, considering initially achondroplasia as a potential diagnosis. DIAGNOSIS: A definitive diagnosis compatible with perinatal lethal HPP was established in the 1st days due to the presentation at birth with thoracic and pulmonary hypoplasia, bone hypomineralization, and undetectable alkaline phosphatase. The genetic analysis identified a new heterozygous c.413G>C mutation and another 1 c.473-2G>C previously described in the ALPL gene. OUTCOMES: The patient died on the 4th day by clinical course complicated without having started enzyme replacement therapy (ERT). Retrospectively, previous analyzes of the parents already showed both a decreased alkaline phosphatase. LESSONS: This report highlights the importance of prenatal differential diagnosis of bone dysplasia with the key biochemical marker of alkaline phosphatase in the parents. Substitutive ERT administered very soon after birth, seems to change the prognosis in these patients with neonatal HPP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.