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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Main Authors: Jacob, J. C., Kutty, K. M., Islam, M., Dominic, R. G., Dawson, G.
Format: Text
Language:English
Published: 1973
Subjects:
Medical Practice
Newfoundland
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535
http://www.ncbi.nlm.nih.gov/pubmed/4704908
id ftpubmed:oai:pubmedcentral.nih.gov:1941535
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spelling 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)
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Medical Practice
spellingShingle 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

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