Listar Ciencias de la Salud por autor "Hwu, Paul"

Mostrando ítems 1-2 de 2

    • Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency 

      McGovern, Margaret M.; Vici, Carlo Dionisi; Giugliani, Roberto; Hwu, Paul; Lidove, Olivier; Lukacs, Zoltan; Mengel, Karl Eugen; Mistry, Pramod; Schuchman, Edward; Wasserstein, Melissa P. (2017) [Artículo de periódico]
      Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in ...

    • Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases 

      Kubaski, Francyne; Herbst, Zackary M.; Pereira, Danilo Augusto Alves; Silva, Camilo; Chen, Christine; Hwu, Paul; Linden, Hélio van der; Lourenço, Charles Marques; Giugliani, Roberto (2021) [Artículo de periódico]
      Aromatic L-amino acid decarboxylase (AADCD) deficiency is an autosomal recessive neurometabolic disorder, caused by biallelic mutations in the DDC gene, that impairs the synthesis or metabolism of neurotransmitters leading ...