The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria

Vazquez-Agra, Nestor; Fernandez-Crespo, Silvia; Marques-Afonso, Ana-Teresa; Cruces-Sande, Anton; Barbosa-Gouveia, Sofia; Martinez-Olmos, Miguel-Angel; Hermida-Ameijeiras, Alvaro.
Med. clín (Ed. impr.) ; 160(9): 385-391, 12 may 2023. tab, graf
Artículo en Inglés | IBECS (España) | ID: ibc-220470

Documentos relacionados

  1. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
  2. Optimization and validation of a bioanalytical HPLC-UV technique for simultaneous determination of underivatized phenylalanine and tyrosine in the blood for phenylketonuria diagnosis and monitoring.
  3. Allelic phenotype prediction of phenylketonuria based on the machine learning method.
  4. Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
  5. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
  6. Predicting factors of neurodevelopmental performance in children with phenylketonuria.
  7. A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.
  8. Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria.
  9. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
  10. Management of phenylketonuria in European PKU centres remains heterogeneous.