Loading...
Please wait, while we are loading the content...
Realities of observational study registration.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Haymond, Shannon |
| Copyright Year | 2014 |
| Abstract | The patient’s serum -1 globulins were reduced at 1.3 g/L (reference interval, 2.1–3.5 g/L). Potential causes include malnutrition, excessive excretion, decreased production, and 1-antitrypsin (A1AT) deficiency. The clinical history was consistent with A1AT deficiency (1–3 ). The diagnosis should be confirmed by direct quantification of circulating A1AT by immunoassay and confirmation of the presence of A1AT disease alelles by isoelectrofocusing and/or genotyping (2– 4 ). In this case, A1AT was not detectable and a Z/Z homozygote phenotype was found. |
| Starting Page | 144 |
| Ending Page | 144 |
| Page Count | 1 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://clinchem.aaccjnls.org/content/clinchem/60/8/1128.full.pdf |
| PubMed reference number | 25215357v1 |
| Volume Number | 60 |
| Issue Number | 8 |
| Journal | Clinical chemistry |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | Genotype determination Globulins Homozygote Immunoassay method Lesch-Nyhan Syndrome Malnutrition Patients Quantitation SERPINA1 wt Allele alpha 1-proteinase inhibitor, human confirmation - ResponseLevel |
| Content Type | Text |
| Resource Type | Article |
