List of works - Isidro Vitoria-Miñana

6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype

scientific article

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

scientific article published on 26 September 2013

Audiological findings in children with mucopolysaccharidoses type i-iv.

scientific article published on 18 February 2017

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

scientific article published on 28 December 2020

Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.

scientific article published on 7 September 2015

Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

scientific article published on 12 February 2015

Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity

scientific article published on 5 October 2013

Dietary practices in isovaleric acidemia: A European survey

scientific article published on 27 February 2017

Dietary practices in propionic acidemia: A European survey

scientific article published on 3 October 2017

Epidemiology of progressive intellectual and neurological deterioration in childhood. A multicentre study in the Community of Valencia

scientific article published on 11 October 2012

Evaluation of carotid intima-media thickness in familial hypercholesterolemia in childhood

scientific article published on 17 March 2009

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

scientific article published on 01 November 2019

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

scientific article published on December 2016

How strict is galactose restriction in adults with galactosaemia? International practice.

scientific article published on 7 April 2015

Improper Use of a Plant-Based Vitamin C-Deficient Beverage Causes Scurvy in an Infant.

scientific article

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.

scientific article published on 09 September 2016

Magnesium in tap and bottled mineral water in Spain and its contribution to nutritional recommendations.

scientific article published in May 2015

Methemoglobinemia induced by vegetable intake in infants in northern Spain

scientific article published on 01 May 2013

Micronutrient in hyperphenylalaninemia

scientific article published on August 2015

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

scientific article published on 25 February 2016

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

scientific article

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

scientific article published on 26 March 2015

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.

scientific article published on 4 June 2013

The calcium concentration of public drinking waters and bottled mineral waters in Spain and its contribution to satisfying nutritional needs

scientific article published on 01 July 2014

The nutritional limitations of plant-based beverages in infancy and childhood.

scientific article published on 24 October 2017

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

scientific article

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

scientific article

Vitamin and mineral status in patients with hyperphenylalaninemia

scientific article published on 27 June 2015

Water for infant bottles and pathogenic parasites

scientific article

[Drinking water in infants]

scientific article published on 01 February 2004

[Fluoride content in tap water in Spain and prevention of dental caries]

scientific article published on 01 January 2014

[Fluoride content of bottled natural mineral waters in Spain and prevention of dental caries]

scientific article published on 21 June 2014

[Nitrate concentrations in tap water in Spain]

scientific article published on 07 February 2015

[Sodium and fluoride in drinking water in infancy]

scientific article published on 01 November 2004

[Xanthomas in an infant]

scientific article published on 16 April 2009

List of works by Isidro Vitoria-Miñana

6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype

Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients

Audiological findings in children with mucopolysaccharidoses type i-iv.

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.

Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity

Dietary practices in isovaleric acidemia: A European survey

Dietary practices in propionic acidemia: A European survey

Epidemiology of progressive intellectual and neurological deterioration in childhood. A multicentre study in the Community of Valencia

Evaluation of carotid intima-media thickness in familial hypercholesterolemia in childhood

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

How strict is galactose restriction in adults with galactosaemia? International practice.

Improper Use of a Plant-Based Vitamin C-Deficient Beverage Causes Scurvy in an Infant.

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.

Magnesium in tap and bottled mineral water in Spain and its contribution to nutritional recommendations.

Methemoglobinemia induced by vegetable intake in infants in northern Spain

Micronutrient in hyperphenylalaninemia

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU.

The calcium concentration of public drinking waters and bottled mineral waters in Spain and its contribution to satisfying nutritional needs

The nutritional limitations of plant-based beverages in infancy and childhood.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

Vitamin and mineral status in patients with hyperphenylalaninemia

Water for infant bottles and pathogenic parasites

[Drinking water in infants]

[Fluoride content in tap water in Spain and prevention of dental caries]

[Fluoride content of bottled natural mineral waters in Spain and prevention of dental caries]

[Nitrate concentrations in tap water in Spain]

[Sodium and fluoride in drinking water in infancy]

[Xanthomas in an infant]