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Human Molecular Genetics|March 21, 1998
Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patientsA Jalanko, K Tenhunen, C E McKinney, et al.Pediatric Nephrology (Berlin, Germany)|January 1, 1992
The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish typeL P Van den Heuvel, J Van den Born, H Jalanko, et al.Human Molecular Genetics|February 3, 2000
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)J Mykkänen, D Torrents, M Pineda, et al.Nature Genetics|March 18, 1999
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance geneD Torrents, J Mykkänen, M Pineda, et al.Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|February 6, 1999
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder)H Suhonen-Polvi, T Varho, L Metsähonkala, et al.American Journal of Medical Genetics|March 25, 1998
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphologyK Zerres, G Mücher, J Becker, et al.Pageof 27