María José de
Castro López
Publicacións nas que colabora con María José de Castro López (21)
2024
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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders
International Journal of Pharmaceutics, Vol. 657
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2023
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A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Journal of Clinical Investigation, Vol. 133, Núm. 2
2022
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Journal of Pediatrics
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
2021
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Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA
International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22
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Evaluation of body composition, physical activity, and food intake in patients with inborn errors of intermediary metabolism
Nutrients, Vol. 13, Núm. 6
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Gene therapy for neuronopathic mucopolysaccharidoses: State of the art
International Journal of Molecular Sciences, Vol. 22, Núm. 17
2020
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Bone status in patients with phenylketonuria: A systematic review
Nutrients, Vol. 12, Núm. 7, pp. 1-15
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Effects of nutritional education interventions on metabolic risk in children and adolescents: A systematic review of controlled trials
Nutrients, Vol. 12, Núm. 1
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Effects of prebiotic and probiotic supplementation on lactase deficiency and lactose intolerance: A systematic review of controlled trials
Nutrients, Vol. 12, Núm. 5
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Rapid phenotype‐driven gene sequencing with the neoseq panel: A diagnostic tool for critically ill newborns with suspected genetic disease
Journal of Clinical Medicine, Vol. 9, Núm. 8, pp. 1-18
2019
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Effects of LC-PUFA supplementation in patients with phenylketonuria: A systematic review of controlled trials
Nutrients, Vol. 11, Núm. 7
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Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems
International journal of molecular sciences, Vol. 20, Núm. 18
2018
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Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials
Advances in nutrition (Bethesda, Md.), Vol. 10, Núm. 2, pp. S88-S96
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Neonatal lethal hypophosphatasia A case report and review of literature
Medicine (United States), Vol. 97, Núm. 48
2017
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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity
Scientific Reports, Vol. 7, Núm. 1