• 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency: A Case Report And Literature Review 

      Yılmaz, Özlem; Kitchen, Steve; Pinto, Alex; Daly, Anne; Gerrard, Adam; Hoban, Rachel; Santa, Saikat; Sreekantam, Srividya; Frost, Kathryn; Pigott, Anna; MacDonald, Anita (Aran Ediciones, S L, 2018)
      Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. ...