Search filters

List of works by Carla Valongo

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

scientific article published on 20 March 2014

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

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

scientific article published in July 2004

Cytometric, morphologic and enzymatic characterisation of haemocytes in Anodonta cygnea

scientific article published on 01 July 2002

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

scientific article

Molecular picture of cobalamin C/D defects before and after newborn screening era.

scientific article published on June 2016

Paulina is supported by:

About Paulina

Help