Krabbe's disease: globoid cell leukodystrophy
The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD)...
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ftpubmed:oai:pubmedcentral.nih.gov:1941535 2023-05-15T17:21:31+02:00 Krabbe's disease: globoid cell leukodystrophy Jacob, J. C. Kutty, K. M. Islam, M. Dominic, R. G. Dawson, G. 1973-06-02 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535 http://www.ncbi.nlm.nih.gov/pubmed/4704908 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535 http://www.ncbi.nlm.nih.gov/pubmed/4704908 Medical Practice Text 1973 ftpubmed 2013-09-01T00:26:44Z The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism. Text Newfoundland PubMed Central (PMC) |
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PubMed Central (PMC) |
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English |
topic |
Medical Practice |
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Medical Practice Jacob, J. C. Kutty, K. M. Islam, M. Dominic, R. G. Dawson, G. Krabbe's disease: globoid cell leukodystrophy |
topic_facet |
Medical Practice |
description |
The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism. |
format |
Text |
author |
Jacob, J. C. Kutty, K. M. Islam, M. Dominic, R. G. Dawson, G. |
author_facet |
Jacob, J. C. Kutty, K. M. Islam, M. Dominic, R. G. Dawson, G. |
author_sort |
Jacob, J. C. |
title |
Krabbe's disease: globoid cell leukodystrophy |
title_short |
Krabbe's disease: globoid cell leukodystrophy |
title_full |
Krabbe's disease: globoid cell leukodystrophy |
title_fullStr |
Krabbe's disease: globoid cell leukodystrophy |
title_full_unstemmed |
Krabbe's disease: globoid cell leukodystrophy |
title_sort |
krabbe's disease: globoid cell leukodystrophy |
publishDate |
1973 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535 http://www.ncbi.nlm.nih.gov/pubmed/4704908 |
genre |
Newfoundland |
genre_facet |
Newfoundland |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535 http://www.ncbi.nlm.nih.gov/pubmed/4704908 |
_version_ |
1766106262921019392 |