Zobrazeno 1 - 2
of 2
pro vyhledávání: '"J. S. S. Sequeira"'
Publikováno v:
Journal of Inherited Metabolic Disease. 21:149-154
An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6d0a2a9e1bc0be85b6b43d1b70fd25
https://doi.org/10.1023/a:1005395709826
https://doi.org/10.1023/a:1005395709826
Publikováno v:
Journal of medical genetics. 34(10)
We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53725a5accbe57ae9b4b178c2697651a
https://pubmed.ncbi.nlm.nih.gov/9350821
https://pubmed.ncbi.nlm.nih.gov/9350821