Found: 77
Select item for more details and to access through your institution.
Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems.
- Published in:
- Pharmaceutics, 2019, v. 11, n. 10, p. 522, doi. 10.3390/pharmaceutics11100522
- By:
- Publication type:
- Article
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
- 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
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-92
- By:
- Publication type:
- Article
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.
- Published in:
- 2013
- By:
- 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
- By:
- 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
- By:
- 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
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2362, doi. 10.3390/jcm9082362
- By:
- Publication type:
- Article
Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
- By:
- Publication type:
- Article
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1262, doi. 10.3390/jcm8081262
- 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
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
- 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
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria.
- Published in:
- 2019
- By:
- Publication type:
- journal article
New insights in growth of phenylketonuric patients.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 5, p. 651, doi. 10.1007/s00431-014-2446-8
- 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
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
Carbohydrate status in patients with phenylketonuria.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Potential protective role of endogenous glutamate-oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic-ischaemic asphyxia.
- Published in:
- 2016
- By:
- 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
- By:
- Publication type:
- Article
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 13, p. 2932, doi. 10.3390/jcm10132932
- 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
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
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.
- Published in:
- 2016
- By:
- Publication type:
- journal article
MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance.
- Published in:
- Endocrinology, Diabetes & Metabolism, 2022, v. 5, n. 5, p. 1, doi. 10.1002/edm2.332
- 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
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
- Published in:
- 2021
- 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
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
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
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
Treatment adherence in tyrosinemia type 1 patients.
- Published in:
- 2021
- By:
- 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
- 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
¿Cuál es la nutrición que administramos a nuestros recién nacidos de muy bajo peso en las unidades neonatales?: una encuesta nacional.
- Published in:
- 2017
- By:
- Publication type:
- journal 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
Tin Oxometallates from the Hydrolysis of SnMe<sub>2</sub><sup>2+</sup> in the Presence of 2,6-Lutidine-α<sup>2</sup>,3-diol and Different Anions.
- Published in:
- European Journal of Inorganic Chemistry, 2015, v. 2015, n. 14, p. 2387, doi. 10.1002/ejic.201500127
- By:
- Publication type:
- Article
A Dinuclear Gold(I)-Silver(I) Derivative of 2-Cyclopentylidene-2-sulfanylacetic Acid and Related Complexes: Synthesis, Crystal Structures, Properties and Antitumor Activity.
- Published in:
- European Journal of Inorganic Chemistry, 2011, v. 2011, n. 8, p. 1322, doi. 10.1002/ejic.201000959
- By:
- Publication type:
- Article