Premium
Diagnosis of Zellweger syndrome by analysis of very long‐chain fatty acids in stored blood spots collected at neonatal screening
Author(s) -
Jakobs C.,
Heuvel C. M. M.,
Stellaard F.,
Largillière C.,
Skovby F.,
Christensen E.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711316
Subject(s) - zellweger syndrome , newborn screening , medicine , metabolic disease , pediatrics , peroxisome , receptor
Summary Zellweger syndrome was diagnosed post mortem by determining the very long‐chain fatty acids in a blood spot collected at neonatal screening.