Concepedia

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

Mireia Tondo, Eduardo Calpena, Gema Arriola, Paloma Sanz, Loreto Martorell, Aída Ormazábal, Esperanza Castejón, Manuel Palacı́n, Magdalena Ugarte, Carmen Espinós,

Molecular Genetics and Metabolism · 2013 · 18 citations · 19 references

DOI

Concepts

References

19

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Marı́a Julia Calonge, Paolo Gasparini, Miguel Chillón et al. · Nature Genetics · 1994 · 381 citations

, , +3

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Jesús Purroy, F. Rousaud et al. · Nature Genetics · 1999 · 335 citations

, , +4

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

David Torrents, Juha Mykkänen, Marta Pineda et al. · Nature Genetics · 1999 · 316 citations

, , +2

Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria

Joachim Pietz, Roland Kreis, André Rupp et al. · Journal of Clinical Investigation · 1999 · 294 citations · Full text

, , +17

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

Mariona Font-Llitjós · Journal of Medical Genetics · 2005 · 174 citations · Full text

, , +15