Aspartylglucosaminuria: Unique biochemical and ultrastructural characteristics
| Autor: | Harvey L. Sharp, J. Nevin Isenberg |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
Pathology
medicine.medical_specialty Aspartylglucosaminuria Hepatosplenomegaly Amidohydrolases Pathology and Forensic Medicine Vacuolated Lymphocytes Intestine Small Leukocytes Humans Medicine Renal Aminoacidurias Skin pathology Skin Psychomotor retardation Histocytochemistry business.industry Aspartylglucosylaminase Hexosamines medicine.disease Liver Child Preschool Ultrastructure Female Lymph Nodes medicine.symptom business Liver pathology Metabolism Inborn Errors |
| Zdroj: | Human Pathology. 7:469-481 |
| ISSN: | 0046-8177 |
| DOI: | 10.1016/s0046-8177(76)80061-5 |
| Popis: | The observation of vacuolated lymphocytes in a coarsely featured two year old female with hepatosplenomegaly, mitral insufficiency, and mild psychomotor retardation led to the first diagnosed case of aspartylglucosaminuria in the United States. Although physical characteristics and bone roentgenograms were consistent with a mucopolysaccharide disorder, analysis of the urine showed no mucopolysaccharide elevation. The chromatographic, enzymatic, and ultrastructural studies confirming the diagnosis are presented. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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