List of works - M E Rubio-Gozalbo

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

scientific article published on 10 June 2016

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

scientific article published on 26 November 2018

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

scientific article published on 20 December 2016

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

scientific article published on 18 May 2016

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

scientific article published on June 2017

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

article

Galactokinase deficiency: lessons from the GalNet registry

scientific article published on 18 August 2020

Galactose metabolism and health

scientific article published on July 2015

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

scientific article

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

scientific article published on 27 February 2019

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

scientific article published on 06 December 2019

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

scientific article published on 17 July 2019

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.

scientific article published on 26 September 2017

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

scientific article published on 16 January 2018

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

scientific article published on 11 December 2019

The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

scientific article published on 17 December 2019

The galactosemia network (GalNet).

scientific article published on 11 November 2016

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

scientific article published on 07 July 2018

The natural history of classic galactosemia: lessons from the GalNet registry

scientific article published on 27 April 2019

List of works by M E Rubio-Gozalbo