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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2009-11-5
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pubmed:abstractText |
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and hypercalciuria is often discovered later or overlooked.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
1945-7197
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
94
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4433-8
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pubmed:dateRevised |
2011-4-27
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pubmed:meshHeading |
pubmed-meshheading:19820004-Child,
pubmed-meshheading:19820004-Exons,
pubmed-meshheading:19820004-Female,
pubmed-meshheading:19820004-Femur,
pubmed-meshheading:19820004-Heterozygote,
pubmed-meshheading:19820004-Humans,
pubmed-meshheading:19820004-Hypercalciuria,
pubmed-meshheading:19820004-Hypophosphatemic Rickets, X-Linked Dominant,
pubmed-meshheading:19820004-Magnetic Resonance Imaging,
pubmed-meshheading:19820004-Male,
pubmed-meshheading:19820004-Mutation, Missense,
pubmed-meshheading:19820004-Nephrolithiasis,
pubmed-meshheading:19820004-Nuclear Family,
pubmed-meshheading:19820004-Polymerase Chain Reaction,
pubmed-meshheading:19820004-Sodium-Phosphate Cotransporter Proteins, Type IIc,
pubmed-meshheading:19820004-Tibia
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pubmed:year |
2009
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pubmed:articleTitle |
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
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pubmed:affiliation |
Cleveland Clinic Lerner College of Medicine at Case Western Reserve University, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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