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Lista de obras de Alberto B Burlina

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

artículo científico publicado en 2014

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

artículo científico publicado en 2015

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

artículo científico publicado en 2017

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.

artículo científico

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

artículo científico publicado en 2016

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

scientific article published on 21 June 2019

Issues with European guidelines for phenylketonuria - Authors' reply.

artículo científico publicado en 2017

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review

artículo científico publicado en 2020

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

artículo científico publicado en 2015

The Impact of a Slow-Release Large Neutral Amino Acids Supplement on Treatment Adherence in Adult Patients with Phenylketonuria

artículo científico publicado en 2020

The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin

artículo científico publicado en 2015

Up to date knowledge on different treatment strategies for phenylketonuria ⬇️

artículo científico publicado el 16 de agosto de 2011

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