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Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria.
- Published in:
- Nephrology, 2015, v. 20, n. 8, p. 576, doi. 10.1111/nep.12479
- By:
- 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
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
Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas.
- Published in:
- Nutrients, 2023, v. 15, n. 16, p. 3566, doi. 10.3390/nu15163566
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- Publication type:
- Article
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
- Published in:
- Nutrients, 2021, v. 13, n. 11, p. 3828, doi. 10.3390/nu13113828
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- Publication type:
- Article
Bone Mineralization and Calcium Phosphorus Metabolism.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
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
- By:
- Publication type:
- 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.
- Published in:
- Nutrients, 2020, v. 12, n. 10, p. 3017, doi. 10.3390/nu12103017
- By:
- Publication type:
- Article
Bone Status in Patients with Phenylketonuria: A Systematic Review.
- Published in:
- Nutrients, 2020, v. 12, n. 7, p. 2154, doi. 10.3390/nu12072154
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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.
- Published in:
- Nutrients, 2020, v. 12, n. 5, p. 1487, doi. 10.3390/nu12051487
- By:
- 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
- By:
- Publication type:
- Article
Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials.
- Published in:
- Nutrients, 2019, v. 11, n. 7, p. 1537, doi. 10.3390/nu11071537
- By:
- Publication type:
- Article
Synthesis and antimicrobial activities of gold(I) sulfanylcarboxylates.
- Published in:
- Gold Bulletin, 2012, v. 45, n. 1, p. 23, doi. 10.1007/s13404-011-0040-7
- By:
- Publication type:
- Article
Carbohydrate status in patients with phenylketonuria.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Effects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial.
- Published in:
- 2015
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 305, doi. 10.1007/s10038-006-0362-0
- By:
- Publication type:
- Article
The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants.
- Published in:
- Journal of Human Lactation, 2020, v. 36, n. 2, p. 245, doi. 10.1177/0890334419892908
- By:
- Publication type:
- 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
- By:
- Publication type:
- 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.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12850, doi. 10.3390/ijms232112850
- By:
- Publication type:
- Article
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9200, doi. 10.3390/ijms22179200
- By:
- Publication type:
- Article
Plasma Proteomic Analysis in Morquio A Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6165, doi. 10.3390/ijms22116165
- By:
- Publication type:
- Article
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2850, doi. 10.3390/ijms22062850
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- Publication type:
- Article
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 226, doi. 10.3390/ijms22010226
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Correction: Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Vitamin C and folate status in hereditary fructose intolerance.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1028, doi. 10.3390/genes11091028
- By:
- Publication type:
- Article
Dihalodimethyltin(IV) complexes of 2-(pyrazol-1-ylmethyl)pyridine.
- Published in:
- Applied Organometallic Chemistry, 2003, v. 17, n. 9, p. 725, doi. 10.1002/aoc.494
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 53, doi. 10.1515/jpem-2012-0293
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- Publication type:
- Article
Sanfilippo syndrome: Overall review.
- Published in:
- Pediatrics International, 2015, v. 57, n. 3, p. 331, doi. 10.1111/ped.12636
- By:
- Publication type:
- Article
Automated Generation of Discrete Event Simulation Models for the Economic Assessment of Interventions for Rare Diseases Using the RaDiOS Ontology.
- Published in:
- International Journal on Artificial Intelligence Tools, 2023, v. 32, n. 1, p. 1, doi. 10.1142/S0218213023500057
- By:
- Publication type:
- Article
Structural Characterization of N-Methylpyridoxine (MePN; PN = Vitamin B<sub>6</sub>) and Its Diorganotin Complexes [SnR<sub>2</sub>(MePN-H)]I (R = Me, Et, Bu and Ph).
- Published in:
- European Journal of Inorganic Chemistry, 2003, v. 2003, n. 15, p. 2790
- By:
- Publication type:
- Article
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 187, doi. 10.1186/s13023-014-0187-4
- By:
- Publication type:
- Article