Patoloxía Molecular das Doenzas Raras
PatMol-DR
Hospital del Bierzo
Ponferrada, EspañaPublikationen in Zusammenarbeit mit Forschern von Hospital del Bierzo (3)
2023
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria
Medicina Clinica, Vol. 160, Núm. 9, pp. 385-391
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The value of waist circumference as a preditor of cardiovascular risk in adult patients with classic phenylketonuria
Medicina Clinica, Vol. 161, Núm. 11, pp. 470-475