| pubmed-article:7212758 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:7212758 | lifeskim:mentions | umls-concept:C0342643 | lld:lifeskim |
| pubmed-article:7212758 | lifeskim:mentions | umls-concept:C1553423 | lld:lifeskim |
| pubmed-article:7212758 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:7212758 | pubmed:dateCreated | 1981-5-26 | lld:pubmed |
| pubmed-article:7212758 | pubmed:abstractText | We diagnosed non X-linked hypophosphataemic bone disease in a 38-month-old girl. Findings included: genu varum, shortened stature, fasting hypophosphataemia (2.3-2.5 mg/100 ml; 0.74-0.81 mmol/l), diminished theoretical renal threshold for phosphate (TmP/GFR), and osteomalacia without rickets. One patient (the father) had fasting hypophosphataemia (2.3-2.7 mg/100 ml; 0.74-0.87 mmol/l) and low TmP/GFR without osteomalacia or shortened stature. Treatment of the girl with 1,25-(OH)2D3 (1 microgram a day) raised the level of serum phosphorus, improved tubular reabsorption of phosphate, and healed the bone deformity; this combination of responses is not present in X-linked hypophosphataemia. There was no correction of hypophosphataemia or TmP/GFR with 1,25-(OH)2D3 treatment (1-3 micrograms a day) in the father. | lld:pubmed |
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| pubmed-article:7212758 | pubmed:language | eng | lld:pubmed |
| pubmed-article:7212758 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:7212758 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:7212758 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:7212758 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:7212758 | pubmed:issn | 1468-2044 | lld:pubmed |
| pubmed-article:7212758 | pubmed:author | pubmed-author:ScriverC RCR | lld:pubmed |
| pubmed-article:7212758 | pubmed:author | pubmed-author:ColeD EDE | lld:pubmed |
| pubmed-article:7212758 | pubmed:author | pubmed-author:ReadeTT | lld:pubmed |
| pubmed-article:7212758 | pubmed:author | pubmed-author:HalalFF | lld:pubmed |
| pubmed-article:7212758 | pubmed:author | pubmed-author:CostaTT | lld:pubmed |
| pubmed-article:7212758 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:7212758 | pubmed:volume | 56 | lld:pubmed |
| pubmed-article:7212758 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:7212758 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:7212758 | pubmed:pagination | 203-7 | lld:pubmed |
| pubmed-article:7212758 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:7212758 | pubmed:meshHeading | pubmed-meshheading:7212758-... | lld:pubmed |
| pubmed-article:7212758 | pubmed:year | 1981 | lld:pubmed |
| pubmed-article:7212758 | pubmed:articleTitle | Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3. | lld:pubmed |
| pubmed-article:7212758 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:7212758 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:7212758 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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