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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

Journal of human genetics, 2017-03, Vol.62 (3), p.355-360

2017

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Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial

Nutrition journal, 2015-09, Vol.14 (1), p.101-101, Article 101

2015

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Carbohydrate status in patients with phenylketonuria

Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.103-103, Article 103

2018

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Asymmetric dimethylarginine, endothelial dysfunction and renal disease

International Journal of Molecular Sciences, 2012-09, Vol.13 (9), p.11288-11311

2012

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Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

Pediatrics international, 2011-12, Vol.53 (6), p.985-989

2011

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Sanfilippo syndrome: Overall review

Pediatrics international, 2015-06, Vol.57 (3), p.331-338

2015

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Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Journal of inherited metabolic disease, 2020-07, Vol.43 (4), p.671-693

2020

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Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography–tandem mass spectrometry. Study of the stability of the samples at different temperatures

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2011-04, Vol.879 (11), p.671-676

2011

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Treatment adherence in tyrosinemia type 1 patients

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.256-256, Article 256

2021

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Postauthorization safety study of betaine anhydrous

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.719-733

2022

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Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence

Nutrients, 2024-02, Vol.16 (5), p.639

2024

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Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis‐specific screening

Pediatrics international, 2020-09, Vol.62 (9), p.1077-1085

2020

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Effects of Maternal Ω‐3 Supplementation on Fatty Acids and on Visual and Cognitive Development

Journal of pediatric gastroenterology and nutrition, 2015-10, Vol.61 (4), p.472-480

2015

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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

Medicine (Baltimore), 2019-09, Vol.98 (39), p.e17303

2019

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Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

Medicine (Baltimore), 2017-07, Vol.96 (27), p.e7392-e7392

2017

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New CTSA mutation in early infantile galactosialidosis

Pediatrics international, 2018-08, Vol.60 (8), p.761-762

2018

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A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.407-413

2019

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New variants in Spanish Niemann–Pick type c disease patients

Molecular biology reports, 2020-03, Vol.47 (3), p.2085-2095

2020

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Fabry disease in the Spanish population: observational study with detection of 77 patients

Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.52-52, Article 52

2018

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

Journal of human genetics, 2016-08, Vol.61 (8), p.731-744

2016

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Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight

Fertility and sterility, 2020-01, Vol.113 (1), p.53-61

2020

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Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.363-371

2010

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Frontoparietal Subdural Hematoma in a Child With Mental Regression

JAMA neurology, 2018-06, Vol.75 (6), p.759

2018

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An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease

Expert opinion on drug metabolism & toxicology, 2017-04, Vol.13 (4), p.439-448

2017

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Non-alcoholic fatty liver in hereditary fructose intolerance

Clinical nutrition (Edinburgh, Scotland), 2020-02, Vol.39 (2), p.455-459

2020

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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial

Carbohydrate status in patients with phenylketonuria

Asymmetric dimethylarginine, endothelial dysfunction and renal disease

Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome

Sanfilippo syndrome: Overall review

Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation

Comparison of plasma and dry blood spots as samples for the determination of nitisinone (NTBC) by high-performance liquid chromatography–tandem mass spectrometry. Study of the stability of the samples at different temperatures

Treatment adherence in tyrosinemia type 1 patients

Postauthorization safety study of betaine anhydrous

Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence

Usefulness of urinary glycosaminoglycans assay for a mucopolysaccharidosis‐specific screening

Effects of Maternal Ω‐3 Supplementation on Fatty Acids and on Visual and Cognitive Development

Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

New CTSA mutation in early infantile galactosialidosis

A new metabolic disorder in human cationic amino acid transporter‐2 that mimics arginase 1 deficiency in newborn screening

New variants in Spanish Niemann–Pick type c disease patients

Fabry disease in the Spanish population: observational study with detection of 77 patients

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

Oocytes of women who are obese or overweight have lower levels of n-3 polyunsaturated fatty acids compared with oocytes of women with normal weight

Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density

Frontoparietal Subdural Hematoma in a Child With Mental Regression

An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease

Non-alcoholic fatty liver in hereditary fructose intolerance

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