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Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria

artículo científico publicado en 2016

Clinical, biochemical and molecular characterization of prosaposin deficiency.

artículo científico publicado en 2016

Correction to: Newborn screening in mucopolysaccharidoses.

artículo científico publicado en 2019

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

artículo científico publicado en 2016

High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease

artículo científico publicado en 2015

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

scientific article published on 21 June 2019

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

artículo científico publicado en 2018

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

artículo científico publicado en 2018

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

artículo científico publicado en 2020

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

artículo científico publicado en 2017

Newborn screening in mucopolysaccharidoses

scientific article published on 16 November 2018

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

artículo científico publicado en 2015

Pivotal role of plasmacytoid dendritic cells in inflammation and NK-cell responses after TLR9 triggering in mice.

artículo científico publicado en 2012

Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study

scientific article published on 01 November 2019

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria

artículo científico publicado en 2014

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature

artículo científico publicado en 2020

The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I

artículo científico publicado en 2020

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