[A staged plan for laboratory diagnosis of hereditary metabolic diseases].
When clinical evidence provides grounds for suspecting inborn errors of metabolism it is urgent to perform the necessary, relevant, specific laboratory investigations in good time and with a view to quality. Normally, the realization depends on individual initiatives and the use of laboratories mainly designed for pediatrics and human genetics. Consequently the results are equally a matter of chance. Nothing in this situation can be changed in principle by using the catalogue of services of the Society for Human Genetics of the GDR. Central administrative provisions are necessary to improve the present unsatisfactory situation. Proposals for regulations, division of responsibility and a graduated programme of parameters are discussed here with a view to establishing uniform procedures.
Zöllner
H
H
Tittelbach-Helmrich
W
W
Bannert
N
N
Cario
W R
WR
Pelz
L
L
Seidlitz
G
G
Cobet
G
G
Wiedemann
G
G
Zinsmeyer
J
J
Beier
L
L
D002648:Child; D004798:Enzymes / Q000172:deficiency; D005817:Genetic Counseling; D005859:Germany, East; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics
D004798:Enzymes
Stufenplan zur Labordiagnostik hereditärer Stoffwechselerkrankungen.