Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease?
Triglycerides and cholesterol esters accumulated in the liver of a patient showing failure to thrive, hepatomegaly and anemia. Acid lipase activity was low but not completely deficient in liver and leukocytes. Correlations of clinical and biochemical data are discussed with special reference to Wolm...
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| Veröffentlicht in: | Clinica chimica acta 1976-06, Vol.69 (2), p.219-224 |
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| container_end_page | 224 |
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| container_issue | 2 |
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| container_title | Clinica chimica acta |
| container_volume | 69 |
| creator | Yoshiyuki, Suzuki Sakae, Kawai Akio, Kobayashi Yoshiro, Ohbe Haruhisa, Endo |
| description | Triglycerides and cholesterol esters accumulated in the liver of a patient showing failure to thrive, hepatomegaly and anemia. Acid lipase activity was low but not completely deficient in liver and leukocytes. Correlations of clinical and biochemical data are discussed with special reference to Wolman's disease and cholesterol ester storage disease. |
| doi_str_mv | 10.1016/0009-8981(76)90499-X |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0009-8981 |
| ispartof | Clinica chimica acta, 1976-06, Vol.69 (2), p.219-224 |
| issn | 0009-8981 1873-3492 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_83471583 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Child Cholesterol - analogs & derivatives Cholesterol Esters - metabolism Chromatography, Thin Layer Fatty Liver - metabolism Humans Lipase - deficiency Lipidoses - genetics Liver - metabolism Male Syndrome Triglycerides - metabolism Xanthomatosis - genetics Xanthomatosis - metabolism |
| title | Partial deficiency of acid lipase with storage of triglycerides and cholesterol esters in liver. Genetic variant of wolman's disease? |
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