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List of works by Ligia Almeida

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

scientific article

Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography-mass spectrometry.

scientific article published in October 2004

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

scientific article

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

scientific article published in July 2004

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

scientific article

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations

scientific article published on 07 May 2011

Syndromes associated with mitochondrial DNA depletion.

scientific article published on 03 April 2014

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

scientific article

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