Pediatría
Departamento
María Luz
Couce Pico
Publicaciones en las que colabora con María Luz Couce Pico (51)
2023
2022
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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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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
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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
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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Treatment adherence in tyrosinemia type 1 patients
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
Journal of Pediatrics, Vol. 239, pp. 231-234.e2
2020
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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693
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Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
2019
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain
Medicine (United States), Vol. 98, Núm. 39
2018
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Carbohydrate status in patients with phenylketonuria
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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Dislipemias genéticas
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 135-154
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Manual clínico del cribado metabólico
Servicio de Publicaciones e Intercambio Científico
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International
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Protocolo de homocistinuria
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 167-180
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Protocolo para el diagnóstico y tratamiento de tirosinemia tipo I
Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 125-134
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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening
Medicine (United States), Vol. 97, Núm. 32