Universal screening for inherited metabolic diseases in the neonate (and the fetus).
about
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Great challenges in pediatrics.Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.
P2860
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
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name
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
@en
type
label
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
@en
prefLabel
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
@en
P2093
P2860
P1476
Universal screening for inherited metabolic diseases in the neonate (and the fetus).
@en
P2093
Generoso Andria
Giancarlo Parenti
Iris Scala
P2860
P356
10.3109/14767058.2012.716983
P433
P577
2012-10-01T00:00:00Z