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List of works by Alberto B Burlina

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

scientific article published on 6 March 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

scientific article

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

scientific article published on 09 March 2017

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

scientific article published on 09 September 2013

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

scientific article

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.

scientific article published in September 2017

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

scientific article published on 9 January 2017

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

scientific article published on 13 November 2020

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

scientific article published on 29 October 2020

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

scientific article

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

scientific article published on 02 November 2020

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

scientific article

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

scientific article published on 14 July 2020

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

scientific article

Up to date knowledge on different treatment strategies for phenylketonuria ⬇️

scientific article published on August 16, 2011

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