Search filters

List of works by Anabela Bandeira

Congenital disorders of glycosylation with neonatal presentation

scientific article published on 16 April 2014

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

scientific article

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

scientific article published on 5 April 2013

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

scientific article published on February 2012

Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source.

scientific article published on 12 April 2017

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.

scientific article

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

scientific article published on 05 June 2020

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

scientific article published on 12 February 2018

Paulina is supported by:

About Paulina

Help