| pubmed-article:18547339 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0017963 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0384156 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0031437 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C1742737 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:18547339 | lifeskim:mentions | umls-concept:C1321758 | lld:lifeskim |
| pubmed-article:18547339 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:18547339 | pubmed:dateCreated | 2009-2-11 | lld:pubmed |
| pubmed-article:18547339 | pubmed:abstractText | Pseudohypoaldosteronism type I (PHA1) is a rare inborn disease causing severe salt loss. Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far, no phenotype has been reported in heterozygous carriers. | lld:pubmed |
| pubmed-article:18547339 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18547339 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18547339 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18547339 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18547339 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18547339 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18547339 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18547339 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18547339 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:18547339 | pubmed:issn | 1365-2265 | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:SchildLaurent... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:CachatFrancoi... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:HolterhusPaul... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:KroneNilsN | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:RiepeFelix... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:GautschiIvanI | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:PlendlHansjör... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:van... | lld:pubmed |
| pubmed-article:18547339 | pubmed:author | pubmed-author:TheintzGerald... | lld:pubmed |
| pubmed-article:18547339 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18547339 | pubmed:volume | 70 | lld:pubmed |
| pubmed-article:18547339 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18547339 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18547339 | pubmed:pagination | 252-8 | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:meshHeading | pubmed-meshheading:18547339... | lld:pubmed |
| pubmed-article:18547339 | pubmed:year | 2009 | lld:pubmed |
| pubmed-article:18547339 | pubmed:articleTitle | Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. | lld:pubmed |
| pubmed-article:18547339 | pubmed:affiliation | Division of Paediatric Endocrinology, Department of Paediatrics, Christian Albrechts Universität zu Kiel, Kiel, Germany. friepe@pediatrics.uni-kiel.de | lld:pubmed |
| pubmed-article:18547339 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18547339 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:18547339 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6337 | entrezgene:pubmed | pubmed-article:18547339 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18547339 | lld:entrezgene |
