Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis

Name: Work Video:
Duration: 3 min 30 s
Description: Abstract Biochemical diagnosis of patients with Krabbe's leukodystrophy, Gaucher's disease, lactosylceramidosis, Fabry's disease, Sandhoff's disease and metachromatic leukodystrophy can be made by ...
Robert J. Desnick; Glyn Dawson; Susan J. Desnick; Charles C. Sweeley; William Krivit
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'https://openalex.org/domains/3', 'display_name': 'Physical Sciences'}}, {'id': 'https://openalex.org/T10602', 'display_name': 'Glycosylation and Glycoproteins Research', 'score': 0.9963, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/krabbe-disease', 'display_name': 'Krabbe disease', 'score': 0.9161496}, {'id': 'https://openalex.org/keywords/sandhoff-disease', 'display_name': 'Sandhoff disease', 'score': 0.82983387}, {'id': 'https://openalex.org/keywords/urinary-sediment', 'display_name': 'Urinary sediment', 'score': 0.8050413}, {'id': 'https://openalex.org/keywords/lysosomal-storage-disease', 'display_name': 'Lysosomal storage disease', 'score': 0.41982633}], 'concepts': [{'id': 'https://openalex.org/C2776326100', 'wikidata': 'https://www.wikidata.org/wiki/Q1120682', 'display_name': 'Metachromatic leukodystrophy', 'level': 2, 'score': 0.9913678}, {'id': 'https://openalex.org/C2777585455', 'wikidata': 'https://www.wikidata.org/wiki/Q511372', 'display_name': 'Krabbe disease', 'level': 4, 'score': 0.9161496}, {'id': 'https://openalex.org/C2776100374', 'wikidata': 'https://www.wikidata.org/wiki/Q1821559', 'display_name': 'Leukodystrophy', 'level': 3, 'score': 0.8379887}, {'id': 'https://openalex.org/C2779390119', 'wikidata': 'https://www.wikidata.org/wiki/Q917227', 'display_name': 'Sandhoff disease', 'level': 3, 'score': 0.82983387}, {'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.826872}, {'id': 'https://openalex.org/C2910111155', 'wikidata': 'https://www.wikidata.org/wiki/Q245639', 'display_name': 'Urinary sediment', 'level': 3, 'score': 0.8050413}, {'id': 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