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The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study.
- Published in:
- Neonatology (16617800), 2019, v. 115, n. 4, p. 348, doi. 10.1159/000497221
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- Publication type:
- Article
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
- Published in:
- 2016
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- Publication type:
- journal article
Proteomics in Inherited Metabolic Disorders.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14744, doi. 10.3390/ijms232314744
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- Publication type:
- Article
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
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- Publication type:
- Article
Plasma Proteomic Analysis in Morquio A Disease.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6165, doi. 10.3390/ijms22116165
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- Publication type:
- Article
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 226, doi. 10.3390/ijms22010226
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- Publication type:
- Article
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4610, doi. 10.3390/ijms20184610
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- Publication type:
- Article
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 6, p. 1584, doi. 10.3390/ijms19061584
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- Publication type:
- Article
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 279, doi. 10.1038/jhg.2013.16
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- Publication type:
- Article
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.
- Published in:
- 2019
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- Publication type:
- journal article
BMP8 and activated brown adipose tissue in human newborns.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25456-z
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- Publication type:
- Article
Carbohydrate status in patients with phenylketonuria.
- Published in:
- 2018
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- Publication type:
- journal article
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5045, doi. 10.3390/jcm11175045
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- Publication type:
- Article
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03219-5
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- Publication type:
- Article
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03204-y
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- Publication type:
- Article
The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants.
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- Journal of Human Lactation, 2020, v. 36, n. 2, p. 245, doi. 10.1177/0890334419892908
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- Publication type:
- Article
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
- Published in:
- 2022
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- Publication type:
- journal article
Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial.
- Published in:
- 2015
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- Publication type:
- journal article
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
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- Publication type:
- Article
Treatment adherence in tyrosinemia type 1 patients.
- Published in:
- 2021
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- Publication type:
- journal article
Recombinant Bile Salt-Stimulated Lipase in Preterm Infant Feeding: A Randomized Phase 3 Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156071
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- Publication type:
- Article
¿Cuál es la nutrición que administramos a nuestros recién nacidos de muy bajo peso en las unidades neonatales?: una encuesta nacional.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular mechanisms of appetite and obesity: a role for brain AMPK.
- Published in:
- Clinical Science, 2016, v. 130, n. 19, p. 1697, doi. 10.1042/CS20160048
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- Publication type:
- Article
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1355962
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- Publication type:
- Article
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1262, doi. 10.3390/genes12081262
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- Publication type:
- Article
Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth.
- Published in:
- 2019
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- Publication type:
- journal article
Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3232, doi. 10.3390/ijms25063232
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- Publication type:
- Article
Odimet ® : A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic.
- Published in:
- Nutrients, 2024, v. 16, n. 3, p. 423, doi. 10.3390/nu16030423
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- Publication type:
- Article
3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations.
- Published in:
- Nutrients, 2024, v. 16, n. 1, p. 61, doi. 10.3390/nu16010061
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- Publication type:
- Article
Effects of Maternal Stress on Breast Milk Production and the Microbiota of Very Premature Infants.
- Published in:
- Nutrients, 2023, v. 15, n. 18, p. 4006, doi. 10.3390/nu15184006
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- Publication type:
- Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
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- Nutrients, 2021, v. 13, n. 11, p. 3828, doi. 10.3390/nu13113828
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- Publication type:
- Article
Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism.
- Published in:
- Nutrients, 2021, v. 13, n. 6, p. 2111, doi. 10.3390/nu13062111
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- Article
Human Milk Concentrations of Minerals, Essential and Toxic Trace Elements and Association with Selective Medical, Social, Demographic and Environmental Factors.
- Published in:
- Nutrients, 2021, v. 13, n. 6, p. 1885, doi. 10.3390/nu13061885
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- Publication type:
- Article
Bone Mineral Density, Body Composition, and Metabolic Health of Very Low Birth Weight Infants Fed in Hospital Following Current Macronutrient Recommendations during the First 3 Years of Life.
- Published in:
- Nutrients, 2021, v. 13, n. 3, p. 1005, doi. 10.3390/nu13031005
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- Publication type:
- Article
Metabolic Bone Disease of Prematurity: Risk Factors and Associated Short-Term Outcomes.
- Published in:
- Nutrients, 2020, v. 12, n. 12, p. 3786, doi. 10.3390/nu12123786
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- Publication type:
- Article
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder.
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- Nutrients, 2020, v. 12, n. 10, p. 3017, doi. 10.3390/nu12103017
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- Publication type:
- Article
Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials.
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- Nutrients, 2020, v. 12, n. 5, p. 1487, doi. 10.3390/nu12051487
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- Publication type:
- Article
Effects of Nutritional Education Interventions on Metabolic Risk in Children and Adolescents: A Systematic Review of Controlled Trials.
- Published in:
- Nutrients, 2020, v. 12, n. 1, p. 31, doi. 10.3390/nu12010031
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- Publication type:
- Article
The Impact of Postnatal Systemic Steroids on the Growth of Preterm Infants: A Multicenter Cohort Study.
- Published in:
- Nutrients, 2019, v. 11, n. 11, p. 2729, doi. 10.3390/nu11112729
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- Publication type:
- Article