ArticleSudanese journal of paediatrics2017
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review.
Article in Sudanese journal of paediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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
7 citing papers in PubMed, 9 citations in OpenAlex.
- Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.Journal of the Endocrine Society · 2024Article
- Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.Bone reports · 2024Article
- Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets.Current pediatric reviews · 2024Review
- Review
- Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.Archives of osteoporosis · 2021Article
- Article authored by three generations: International lifetime commitment to child health.Sudanese journal of paediatrics · 2017Article
- Burosumab: A new drug to treat hypophosphatemic rickets.Sudanese journal of paediatrics · 2017Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.
Indexed as
Identifiers
29213174PMC5621863W2907702999What OpenQuestion holds
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.