A

ANDRIA G

Last name: ANDRIA G

2013 (v1)

Publication

Metadata-only

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

CERONE, ROBERTO Andria G Giovannini M

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Uploaded on: April 14, 2023
2017 (v1)

Publication

Metadata-only

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

Borghesi, Alessandro Mencarelli, Maria Antonietta Memo, Luigi

The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the...

Uploaded on: April 14, 2023