Mucolipidosis type IV: Accumulation of phospholipids and gangliosides in cultured amniotic cells. A tool for prenatal diagnosis
| Autor: | V. Suri, Marsha Zeigler, B. Meidan, Ruth Bargal, Gideon Bach |
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| Rok vydání: | 1992 |
| Předmět: |
medicine.medical_specialty
Amniotic fluid Prenatal diagnosis Biology chemistry.chemical_compound Mucolipidoses Pregnancy Gangliosides Internal medicine medicine Humans Amnion Cells Cultured Phospholipids Genetics (clinical) Fetus Amniotic fluid cells Obstetrics and Gynecology Carbohydrate medicine.disease Molecular biology Oleic acid Endocrinology chemistry Cell culture Amniocentesis Female lipids (amino acids peptides and proteins) Chromatography Thin Layer Mucolipidosis type IV |
| Zdroj: | Prenatal Diagnosis. 12:1037-1042 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970121209 |
| Popis: | Cultured amniotic fluid cells from two mucolipidosis type IV (MLIV)-affected fetuses demonstrated accumulation of phospholipids and gangliosides when compared with normal controls. Like cultured skin fibroblasts from MLIV patients, cultured amniotic cells from the affected fetuses accumulated primarily lyso phospholipids and this could be demonstrated by radioactive labelling with appropriate precursors, either inorganic phosphate or oleic acid. Furthermore, like cultured skin fibroblasts, there was significant retention of exogenously supplied GD1A ganglioside in the affected amniotic cells. This storage was previously demonstrated to be unique to MLIV and thus can be used at present as a specific procedure for prenatal diagnosis of MLIV. |
| Databáze: | OpenAIRE |
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