Iminoglycinuria

01/01/2023 - "The previous studies have reported that the mutation of SLC6A20 may cause hyperglycinuria or iminoglycinuria which may lead to nephrolithiasis. "

07/01/2013 - "Mutations in these transporters cause rare inherited disorders such as Hartnup disorder and iminoglycinuria. "
04/01/2008 - "Recent advances in the molecular identification of apical neutral amino acid transporters has shed a light on the molecular basis of Hartnup disorder and iminoglycinuria."
01/01/2006 - "Recent success in the molecular cloning and identification of apical neutral amino acid transporters has shed a new light on inherited neutral amino acidurias, such as Hartnup disorder and Iminoglycinuria. "
04/01/2008 - "In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
09/01/1980 - "Apart from phenylketonuria, now normally detected by blood screening at five days, the most frequent abnormalities identified were cystinuria, histidinemia, Hartnup disease, and iminoglycinuria. "

01/01/1980 - "Two patients, including the subject with 3-methylcrotonylglycinuria, showed a gross aminoaciduria with features of both cystinuria and iminoglycinuria. "
06/01/1983 - "Phenylketonuria was found in a mentally retarded girl and in one of her brothers; iminoglycinuria in a mentally retarded boy and heterozygote cystinuria in a man with manic-depressive psychosis. "
04/01/2008 - "In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
09/01/1980 - "Apart from phenylketonuria, now normally detected by blood screening at five days, the most frequent abnormalities identified were cystinuria, histidinemia, Hartnup disease, and iminoglycinuria. "
12/13/2018 - "A number of rare inherited disorders have contributed to the identification of amino acid transporters in epithelial cells of the small intestine, in particular cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "

04/01/2008 - "In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
12/13/2018 - "A number of rare inherited disorders have contributed to the identification of amino acid transporters in epithelial cells of the small intestine, in particular cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
04/01/2008 - "This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. "
01/01/2008 - "This is illustrated by a number of inherited disorders affecting amino acid transport in epithelial cells, such as cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, dicarboxylic aminoaciduria, and some other less well-described disturbances of amino acid transport. "
07/01/1992 - "The disorders were categorized into three types of transport defects, namely, brush-border membrane of epithelial cells of small intestine and kidney tubules (Hartnup disease, blue diaper syndrome, cystinuria, iminoglycinuria and lysine malabsorption syndrome), basolateral membrane (lysinuric protein intolerance) and membrane of intracellular organelles (cystinosis and hyperornitinemia-hyperammonemia-homocitrullinuria syndrome). "

04/01/2008 - "In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
12/13/2018 - "A number of rare inherited disorders have contributed to the identification of amino acid transporters in epithelial cells of the small intestine, in particular cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. "
04/01/2008 - "This is illustrated by inherited disorders of amino acid absorption, such as Hartnup disorder, cystinuria, iminoglycinuria, dicarboxylic aminoaciduria, and lysinuric protein intolerance, affecting separate groups of amino acids. "
01/01/2008 - "This is illustrated by a number of inherited disorders affecting amino acid transport in epithelial cells, such as cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, dicarboxylic aminoaciduria, and some other less well-described disturbances of amino acid transport. "