دورية أكاديمية
Familial increased serum intestinal alkaline phosphatase: a new variant associated with Gilbert's syndrome.
العنوان: | Familial increased serum intestinal alkaline phosphatase: a new variant associated with Gilbert's syndrome. |
---|---|
المؤلفون: | Lieverse AG; Department of Internal Medicine, University Hospital Groningen, The Netherlands., van Essen GG, Beukeveld GJ, Gazendam J, Dompeling EC, ten Kate LP, van Belle SA, Weits J |
المصدر: | Journal of clinical pathology [J Clin Pathol] 1990 Feb; Vol. 43 (2), pp. 125-8. |
نوع المنشور: | Case Reports; Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Print Cited Medium: Print ISSN: 0021-9746 (Print) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE |
أسماء مطبوعة: | Publication: London : BMJ Pub. Group Original Publication: London : British Medical Association |
مواضيع طبية MeSH: | Alkaline Phosphatase/*blood , Gilbert Disease/*enzymology , Hyperbilirubinemia, Hereditary/*enzymology, Adult ; Electrophoresis, Agar Gel ; Female ; Gilbert Disease/genetics ; Humans ; Intestines/enzymology ; Isoenzymes/analysis ; Liver/enzymology ; Male ; Pedigree |
مستخلص: | Investigation of mild, inherited increased serum alkaline phosphatase activity partially combined with Gilbert's syndrome in one family showed, apart from a normal liver fraction, an intestinal isoenzyme pattern and an extra band in the agar electrophoresis. Analysis by agarose electrophoresis before and after incubation of neuraminidase showed that the extra fraction was an intestinal variant isoenzyme. The precise genetic background of the two disorders in this family could not be determined from the available data. Abnormal activities of (regular) intestinal alkaline phosphatase isoenzyme caused the increase in serum alkaline phosphatase in the absence of disease. |
References: | Ann Hum Genet. 1967 Jan;30(3):219-32. (PMID: 6067798) Clin Chem. 1988 Sep;34(9):1857-62. (PMID: 3046780) Clin Chem. 1977 Feb;23(2 PT. 1):292-4. (PMID: 832398) Clin Chem. 1978 Mar;24(3):520-2. (PMID: 630721) N Engl J Med. 1979 Nov 1;301(18):983-4. (PMID: 492229) Am J Dis Child. 1980 Nov;134(11):1094-5. (PMID: 7435471) Arch Intern Med. 1982 Jan;142(1):188-9. (PMID: 7053722) Crit Rev Clin Lab Sci. 1982;16(3):161-94. (PMID: 7047076) Hum Genet. 1982;62(4):293-5. (PMID: 7166303) Acta Paediatr Scand. 1983 Nov;72(6):833-5. (PMID: 6673484) Clin Pediatr (Phila). 1984 Jun;23(6):336-7. (PMID: 6723178) Rev Clin Esp. 1984 Apr 15;173(1):53-4. (PMID: 6739898) Clin Chim Acta. 1984 Nov 15;143(2):177-82. (PMID: 6509775) Biochem Biophys Res Commun. 1985 Jan 16;126(1):427-33. (PMID: 3970701) South Med J. 1987 Jun;80(6):788-90. (PMID: 3589775) Clin Chim Acta. 1973 May 18;45(3):219-35. (PMID: 4708051) |
المشرفين على المادة: | 0 (Isoenzymes) EC 3.1.3.1 (Alkaline Phosphatase) |
تواريخ الأحداث: | Date Created: 19900201 Date Completed: 19900503 Latest Revision: 20190501 |
رمز التحديث: | 20231215 |
مُعرف محوري في PubMed: | PMC502292 |
DOI: | 10.1136/jcp.43.2.125 |
PMID: | 2318988 |
قاعدة البيانات: | MEDLINE |
تدمد: | 0021-9746 |
---|---|
DOI: | 10.1136/jcp.43.2.125 |