Paula
Sánchez Pintos
Hospital Universitario 12 de Octubre
Madrid, EspañaPublications in collaboration with researchers from Hospital Universitario 12 de Octubre (5)
2023
2022
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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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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2019
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39