| pubmed-article:20101413 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20101413 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:20101413 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:20101413 | lifeskim:mentions | umls-concept:C0268120 | lld:lifeskim |
| pubmed-article:20101413 | lifeskim:mentions | umls-concept:C0205198 | lld:lifeskim |
| pubmed-article:20101413 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:20101413 | pubmed:dateCreated | 2010-4-16 | lld:pubmed |
| pubmed-article:20101413 | pubmed:abstractText | Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J. In the patients described here, brown round crystals were found in their urinary sediment. Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*. We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT*Q0 /APRT*J compound heterozygote-type APRT deficiency. Genetic screening for APRT*Q0 and APRT*J of family members is effective for early diagnosis and early treatment for family members. | lld:pubmed |
| pubmed-article:20101413 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20101413 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20101413 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20101413 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20101413 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20101413 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:20101413 | pubmed:issn | 1432-198X | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:ItohSusumuS | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:KusakaTakashi... | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:ImaiTadashiT | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:NishidaTomoko... | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:IwakiTakumaT | lld:pubmed |
| pubmed-article:20101413 | pubmed:author | pubmed-author:OhashiIkukoI | lld:pubmed |
| pubmed-article:20101413 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20101413 | pubmed:volume | 25 | lld:pubmed |
| pubmed-article:20101413 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20101413 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20101413 | pubmed:pagination | 1173-6 | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:meshHeading | pubmed-meshheading:20101413... | lld:pubmed |
| pubmed-article:20101413 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20101413 | pubmed:articleTitle | Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency. | lld:pubmed |
| pubmed-article:20101413 | pubmed:affiliation | Department of Pediatrics, Faculty of Medicine, Kagawa University, Mikicho 1750-1, Kitagun, Kagawa 761-0793, Japan. iwaki@med.kagawa-u.ac.jp | lld:pubmed |
| pubmed-article:20101413 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20101413 | pubmed:publicationType | Case Reports | lld:pubmed |
