| X-linked hypophosphatemic rickets associated with respiratory failure. | |
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MedLine Citation:
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PMID: 18057152 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a 5-year-old girl who presented to our emergency room with respiratory arrest and limb deformities and was subsequently diagnosed with X-linked hypophosphatemic rickets. On normalization of the serum phosphorus concentration, her respiratory distress resolved, illustrating that untreated X-linked hypophosphatemic rickets can lead to life-threatening respiratory distress. |
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Authors:
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Andrea Balazs; George Jeha; Sheila K Gunn; Lefkothea P Karaviti |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2007-12-05 |
Journal Detail:
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Title: Clinical pediatrics Volume: 47 ISSN: 0009-9228 ISO Abbreviation: Clin Pediatr (Phila) Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-03-20 Completed Date: 2008-06-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372606 Medline TA: Clin Pediatr (Phila) Country: United States |
Other Details:
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Languages: eng Pagination: 293-5 Citation Subset: AIM; IM |
Affiliation:
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Department of Pediatric Endocrinology and Metabolism, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas 77030, USA. aebalazs@texaschildrenshospital.org |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Female Genetic Diseases, X-Linked / complications*, diagnosis Humans Hypophosphatemic Rickets, X-Linked Dominant / complications*, genetics* PHEX Phosphate Regulating Neutral Endopeptidase / genetics Phosphates / therapeutic use Respiratory Insufficiency / etiology* |
| Chemical | |
Reg. No./Substance:
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0/Phosphates; EC 3.4.24.-/PHEX Phosphate Regulating Neutral Endopeptidase; EC 3.4.24.-/PHEX protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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