Publicacións (30) Publicacións de Paula Sánchez Pintos

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

  2. 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

    Nutrients, Vol. 16, Núm. 3

  3. Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders

    International Journal of Pharmaceutics, Vol. 657

  4. Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

2023

  1. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency

    Journal of Inherited Metabolic Disease, Vol. 46, Núm. 6, pp. 1170-1185

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

2022

  1. Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

    Frontiers in Pediatrics, Vol. 10

  2. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  3. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  4. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. Evaluation of body composition, physical activity, and food intake in patients with inborn errors of intermediary metabolism

    Nutrients, Vol. 13, Núm. 6

  2. Screen Time and Bone Status in Children and Adolescents: A Systematic Review

    Frontiers in Pediatrics, Vol. 9

  3. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

  4. Treatment adherence in tyrosinemia type 1 patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Bone status in patients with phenylketonuria: A systematic review

    Nutrients, Vol. 12, Núm. 7, pp. 1-15

  2. Clinical utility of lct genotyping in children with suspected functional gastrointestinal disorder

    Nutrients, Vol. 12, Núm. 10, pp. 1-16

  3. Evaluación y perspectiva de 20 años de cribado neonatal en Galicia. Resultados del programa

    Revista espanola de salud publica, Vol. 94

2019

  1. Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker

    Medicine, Vol. 98, Núm. 15, pp. e15221

  2. Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    International Journal of Pharmaceutics, Vol. 567

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

    Medicine (United States), Vol. 98, Núm. 39