Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.

Authors:
Wang L; Kulaixi G; Zaiyinati J; Aibai G; Du D and 1 more

Journal:
BMC Pediatr

Publication Year: 2024

DOI:
10.1186/s12887-024-04589-2

PMCID:
PMC10865686

PMID:
38355430

Journal Information

Full Title: BMC Pediatr

Abbreviation: BMC Pediatr

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Pediatrics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Transparency Score
4/6
66.7% Transparent
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Core Indicators
Evidence found in paper:

"availability of data and materials the slc34a3 genes analyse in the current study are available in the dbsnp repository rs121918238 the lrp5 genes analyse in the current study are available in the dbsnp repository rs772148405 https://www ncbi nlm nih gov/snp/ ."

Code Sharing
Evidence found in paper:

"Declarations Ethics approval and consent to participateAll experimental protocols were approved by The People′s Hospital of Xinjiang Uygur Autonomous Region Ethics Committee. The patients’ parents provided written informed consent for all genetic studies performed in relation to this case. Consent for publicationA copy of the signed, written informed consent for publication form from the patients’ parents is available for review by the editor. Competing interestsThe authors declare no competing interests. Competing interests The authors declare no competing interests."

Evidence found in paper:

"Funding Funding support from Autonomous Region Science and Technology Department Platform Construction Project (PT1601)."

Protocol Registration
Open Access
Paper is freely available to read
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Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025