• 1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance
• Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test
• Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
• Cystine Urolithiasis in Early Childhood
• Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry
• 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
• Lysinuric protein intolerance: reviewing concepts on a multisystem disease
• New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype
• Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids
• Pathophysiology and treatment of cystinuria
• The amino acid transport system b(o,+) and cystinuria
• The molecular bases of cystinuria and lysinuric protein intolerance
• Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet