Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D001827:Body Height; D003241:Consanguinity; D005260:Female; D005387:Finland; D005808:Genes, Recessive; D006130:Growth Disorders / Q000150:complications; D006529:Hepatomegaly / Q000150:complications; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008239:Lysine / Q000378:metabolism* / Q000652:urine; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000378:metabolism; D012737:Sex Factors; D014508:Urea / Q000096:biosynthesis
D000596:Amino Acids; D011506:Proteins; D014508:Urea; D008239:Lysine