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Disease: Dibasic aminoaciduria 2

  • Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test
  • Aminoglycoside-associated Fanconi's syndrome: an underrecognized entity
  • Arginase deficiency
  • Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
  • Congenital lysinuria: a new inherited transport disorder of dibasic amino acids
  • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
  • Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry
  • Digenic Inheritance in Cystinuria Mouse Model
  • Focal glycogenosis of the liver in disorders of ureagenesis: its occurrence and diagnostic significance
  • Heavy metal mediated inhibition of rBAT-induced amino acid transport
  • Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria
  • Hyperargininemia
  • The amino acid transport system b(o,+) and cystinuria
  • The molecular basis of cystinuria: the role of the rBAT gene
  • Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet
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