Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.

A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY)...

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Cyhoeddwyd yn:	J Med Genet
Prif Awduron:	Pierides, A M, Holti, G, Crombie, A L, Roberts, D F, Gardiner, S E, Colling, A, Anderson, J
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMJ Publishing Group 1976
Pynciau:	Research Article
Mynediad Ar-lein:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013470/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/828204/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.6.455
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