• Publications
  • Influence
Candida albicans estrogen-binding protein gene encodes an oxidoreductase that is inhibited by estradiol.
Candida albicans, the most common fungal pathogen of humans, possesses an estrogen-binding protein (EBP) that binds mammalian estrogens with high affinity. We report here the cloning and completeExpand
  • 106
  • 9
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Mutations in the PCCA or PCCB genes, encoding both subunits of propionyl-CoA carboxylase, result in propionic acidemia, a life-threatening inborn error of metabolism with autosomal recessiveExpand
  • 72
  • 5
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). TheExpand
  • 63
  • 5
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Propionic acidemia is an inherited metabolic disease caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC), one of the four biotin-dependent enzymes. PCC is aExpand
  • 58
  • 5
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and highExpand
  • 22
  • 4
  • PDF
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl‐CoA carboxylase, a heteropolymeric mitochondrial enzyme involved in the catabolism of branched chain aminoExpand
  • 78
  • 3
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Purpose:Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. TheExpand
  • 28
  • 3
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1‐Related Neurological Disease
&NA; We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassedExpand
  • 21
  • 3
  • PDF
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
Propionic acidaemia (PA) is an autosomal recessive disorder caused by mutations in either of the PCCA or PCCB genes which encode the α and β subunits, respectively, of the mitochondrial enzymeExpand
  • 56
  • 2
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Propionyl-CoA carboxylase (PCC) is a mitochondrial biotin-dependent enzyme composed of an equal number of alpha and beta subunits. Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) geneExpand
  • 41
  • 2
...
1
2
3
4
5
...