| pubmed-article:8946177 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8946177 | lifeskim:mentions | umls-concept:C0007804 | lld:lifeskim |
| pubmed-article:8946177 | lifeskim:mentions | umls-concept:C0032356 | lld:lifeskim |
| pubmed-article:8946177 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:8946177 | pubmed:dateCreated | 1997-3-4 | lld:pubmed |
| pubmed-article:8946177 | pubmed:abstractText | Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD). In Poland we estimated the incidence of the Pd allele at 6% and that of isolated 1788 mutation (loss of glycosylation site) at 3%. Out of 8 cases with neurological symptoms and low ASA activity, 2 were found to be homozygous for the Pd allele; 2 MLD patients had healthy siblings homozygous for the Pd allele and another patient's allele bore two mutations, Pd and that causing MLD. | lld:pubmed |
| pubmed-article:8946177 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8946177 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8946177 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8946177 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8946177 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8946177 | pubmed:issn | 1018-4813 | lld:pubmed |
| pubmed-article:8946177 | pubmed:author | pubmed-author:GórskaDD | lld:pubmed |
| pubmed-article:8946177 | pubmed:author | pubmed-author:CzartoryskaBB | lld:pubmed |
| pubmed-article:8946177 | pubmed:author | pubmed-author:ZimowskiJ GJG | lld:pubmed |
| pubmed-article:8946177 | pubmed:author | pubmed-author:BiskoMM | lld:pubmed |
| pubmed-article:8946177 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8946177 | pubmed:volume | 4 | lld:pubmed |
| pubmed-article:8946177 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8946177 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8946177 | pubmed:pagination | 301-3 | lld:pubmed |
| pubmed-article:8946177 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:meshHeading | pubmed-meshheading:8946177-... | lld:pubmed |
| pubmed-article:8946177 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8946177 | pubmed:articleTitle | Arylsulfatase A pseudodeficiency--incidence in Poland. | lld:pubmed |
| pubmed-article:8946177 | pubmed:affiliation | Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. | lld:pubmed |
| pubmed-article:8946177 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8946177 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
