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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

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

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

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