Hospital Ramón y Cajal -ko ikertzaileekin lankidetzan egindako argitalpenak (92)

2024

  1. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

    Nutrients, Vol. 16, Núm. 13

  2. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

    The Lancet, Vol. 404, Núm. 10460, pp. 1333-1345

  3. Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

    Nutrients , Vol. 16, Núm. 17

  4. The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

    International Journal of Molecular Sciences, Vol. 25, Núm. 16

  5. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

    Biomedicines, Vol. 11, Núm. 10

  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

  3. New challenges in management of phenylketonuria in pregnancy: a case report

    Journal of Medical Case Reports, Vol. 17, Núm. 1

  4. Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States

    Nutrition, Vol. 116

  5. Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 64-65

2022

  1. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    JIMD Reports, Vol. 63, Núm. 2, pp. 146-161

  2. Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

    Amino Acids, Vol. 54, Núm. 5, pp. 777-786

  3. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126

  4. Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  5. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231

  6. Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

    Antioxidants, Vol. 11, Núm. 8

  7. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

  8. Vitamin C and folate status in hereditary fructose intolerance

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

2021

  1. Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

    Molecular Genetics and Metabolism, Vol. 132, Núm. 4, pp. 215-219

  2. Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

    Molecular Genetics and Metabolism Reports, Vol. 28