| pubmed-article:234376 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:234376 | lifeskim:mentions | umls-concept:C0231330 | lld:lifeskim |
| pubmed-article:234376 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:234376 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:234376 | pubmed:dateCreated | 1975-5-19 | lld:pubmed |
| pubmed-article:234376 | pubmed:abstractText | Clinical, histological (including electron-microscopic), immunohistochemical and genetic studies were performed on two infants with alpha1-antitrypsin deficiency. The clinical picture was one of neonatal biliary stasis. Liver biopsies revealed multiple cytoplasmic acidophilic bodies within many cells of the liver parenchyma which were strongly periodic acid-Schiff-positive, diastase-resistant and stained selectively with fluorescein-labelled rabbit antihuman alpha1-antitrypsin. Ultrastructurally, the bodies were situated within enlarged cisterns of the endoplasmatic reticulum. Both infants were of the protease inhibitor (Pi) phenotype ZZ, having inherited on PiZ gene from each parent. Results of Pi typing of both families were consistent with an autosomal co-dominant inheritance. Both infants are clinically well except for slight hepatomegaly at one year of age. But transaminase and gamma-glutamyl transpeptidase activities have remained elevated. | lld:pubmed |
| pubmed-article:234376 | pubmed:language | ger | lld:pubmed |
| pubmed-article:234376 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:234376 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:234376 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:234376 | pubmed:issn | 0012-0472 | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:RotthauweH... | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:MüllerRR | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:SennekampJJ | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:GoeddeH WHW | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:BenkmannH GHG | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:Totovi?VV | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:SchattenbergP... | lld:pubmed |
| pubmed-article:234376 | pubmed:author | pubmed-author:ExssRR | lld:pubmed |
| pubmed-article:234376 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:234376 | pubmed:day | 7 | lld:pubmed |
| pubmed-article:234376 | pubmed:volume | 100 | lld:pubmed |
| pubmed-article:234376 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:234376 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:234376 | pubmed:pagination | 222-8 | lld:pubmed |
| pubmed-article:234376 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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| pubmed-article:234376 | pubmed:year | 1975 | lld:pubmed |
| pubmed-article:234376 | pubmed:articleTitle | [Alpha-antitrypsin deficiency in infancy]. | lld:pubmed |
| pubmed-article:234376 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:234376 | pubmed:publicationType | English Abstract | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:234376 | lld:pubmed |
