Disease: Iminoglycinuria
- A case of type I hyperprolinemia associated with photogenic epilepsy
- A Fukuyama type of congenital muscular dystrophy associated with atypical gyrate atrophy of the choroid and retina. A case report
- A genome-wide association study of metabolic traits in human urine
- A new type of heterozygote of familial renal iminoglycinuria
- Amino acid transport across mammalian intestinal and renal epithelia
- Amino Acid Transport Across the Mammalian Intestine
- Aminoacidurias: Clinical and molecular aspects
- Apical transporters for neutral amino acids: physiology and pathophysiology
- Atypical gyrate atrophy of the choroid and retina and iminoglycinuria
- Atypical gyrate atrophy of the choroid and retina associated with iminoglycinuria
- Behavioral and neurochemical effects of proline
- Coffin-Lowry syndrome and hyperprolinemia
- Combined iminoglycinuria and cystine- and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria
- Cystathioninuria and renal iminoglycinuria in a pedigree
- Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice
- Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6)
- Familial encephalopathy, imino-glycinuria, hydroxyprolinemia
- Familial iminoglycinuria
- Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids in association with profound mental retardation, a possible "cerebral phenotype"
- Familial iminoglycinuria. An inborn error of renal tubular transport
- Genetic mutation of SLC6A20 (c.1072T > C) in a family with nephrolithiasis: A case report
- Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors
- Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters
- Iminoglycinuria in a child in Czechoslovakia
- Iminoglycinuria--a "harmless" inborn error of metabolism?
- Iminoglycinuria: a benign type of inherited aminoaciduria
- Iminoglycinuria. A defect of renal tubular transport
- Inherited amino acid transport disorders
- Intestinal IMINO transporter SIT1 is not expressed in human newborns
- Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance
- Isolation and function of the amino acid transporter PAT1 (slc36a1) from rabbit and discrimination between transport via PAT1 and system IMINO in renal brush-border membrane vesicles
- Neonatal iminoglycinuria: evidence that the prolinuria originates in selective deficiency of transport activity in the proximal nephron
- Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine systems
- Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica
- Proceedings: Familial iminoglycinuria with normal intestinal absorption of glycine and imino acids
- Renal imino acid and glycine transport system ontogeny and involvement in developmental iminoglycinuria
- Renal iminoglycinuria without intestinal malabsorption of glycine and imino acids
- Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977
- Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)
- Structure and function of the SIT1 proline transporter in complex with the COVID-19 receptor ACE2
- The molecular basis of neutral aminoacidurias
- The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport
- The SLC6A15-SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic Relevance
- Transport of amino acids in renal brush border membrane vesicles. Uptake of L-proline
- Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes
- Uptake of glycine by human kidney cortex
- Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies