about
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by SerA case of heterozygous Fabry's disease with a short PR interval and giant negative T wavesHematopoietic cell transplantation in murine globoid cell leukodystrophy (the twitcher mouse): effects on levels of galactosylceramidase, psychosine, and galactocerebrosidesEarly and late functions associated with the Golgi apparatus reside in distinct compartments.Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase.Intercellular transport of lysosomal acid lipase mediates lipoprotein cholesteryl ester metabolism in a human vascular endothelial cell-fibroblast coculture system.Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.Laboratory diagnosis of canine GM2-gangliosidosis using blood and cerebrospinal fluid.Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of G(M1)-gangliosidosis in Shiba dogs.Cerebral organoids derived from Sandhoff disease induced pluripotent stem cells exhibit impaired neurodifferentiation.Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat.
P2860
Q28236442-7F29DC8F-9DF0-4561-B33E-97FD35A083E5Q33999295-BB2BF4BA-37E6-49C8-A8C2-21AEB0DB5B51Q34559508-A7B5B00B-0421-48A0-81D1-BDAAA702CE95Q36382547-A7EFC95C-1C2A-4071-A9D1-6A6EABAE5457Q36642911-A6D1C375-EC62-4800-8998-998ED3D21D19Q36739568-B5217D1F-56A6-4587-8FF2-6766D2505564Q43059581-D952BDAC-715C-43A5-B439-B573B637CF7AQ44770850-FE8AD10F-EF2E-4393-9614-86F0821EA72AQ45014593-E55E34CE-EC96-44B3-95C5-0BEE43519DACQ47846451-357FD4A0-F037-4870-9892-49418979EF01Q48321386-984041B3-5414-41DD-A41F-6F228ADF77E5
P2860
description
1978 nî lūn-bûn
@nan
1978年の論文
@ja
1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
1978年论文
@zh
1978年论文
@zh-cn
name
Enzymic diagnosis of sphingolipidoses.
@en
type
label
Enzymic diagnosis of sphingolipidoses.
@en
prefLabel
Enzymic diagnosis of sphingolipidoses.
@en
P1476
Enzymic diagnosis of sphingolipidoses.
@en
P2093
P304
P356
10.1016/0076-6879(78)50049-9
P407
P577
1978-01-01T00:00:00Z