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• W2057068997 abstract "Acta PaediatricaVolume 53, Issue 1 p. 18-32 Familial Cirrhosis of the Liver, Renal Tubular Defects with Rickets and Impaired Tyrosine Metabolism STIG FRITZELL, STIG FRITZELL Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, Sweden Department of Pediatrics Centrallasarettet Uddevalla SwedenSearch for more papers by this authorO. RUDOLF JAGENBURG, O. RUDOLF JAGENBURG Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, SwedenSearch for more papers by this authorLARS-BERTIL SCHNÜRER, LARS-BERTIL SCHNÜRER Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, SwedenSearch for more papers by this author STIG FRITZELL, STIG FRITZELL Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, Sweden Department of Pediatrics Centrallasarettet Uddevalla SwedenSearch for more papers by this authorO. RUDOLF JAGENBURG, O. RUDOLF JAGENBURG Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, SwedenSearch for more papers by this authorLARS-BERTIL SCHNÜRER, LARS-BERTIL SCHNÜRER Department of Pediatrics, County Hospital, Uddevalla, and the Departments of Medical Biochemistry and Pathology II, University of Gothenburg, SwedenSearch for more papers by this author First published: January 1964 https://doi.org/10.1111/j.1651-2227.1964.tb07202.xCitations: 16AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Reference 1 Baber, M. D.: A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi's syndrome. Arch Dis Child, 31: 335, 1956. 2 Baron, D. N., Dent, C. E., Harris, H., Hart, E. W. and Jepson, J. B.: Hereditary pellagra-like skin rash with temporary cere-bellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet, 2: 421, 1956. 3 Bickel, H., Smallwood, W. C., Smellie, J. M., Baar, H. S. and Hickmans, E. M.: Cystine storage disease with aminoaciduria and dwarfism. Acta Paediat (Stockh) Suppl 90, 1952. 4 Blass, J., Cachin, M. and Durlach, J.: Application de la micro-chromatographie de partage sur papier à l‘étude de l'amino-acidémie au cours des cirrhoses. Présence constante de tyrosine dans les sérums de cirrhotiques. Bull Soc Méd Paris, 66: 1253, 1950. 5 Carlsten, A., Hallgren, B., Jagenburg, O. R., Svanborg, A. and Werkö, L.: Myocardial metabolism of glucose, lactic acid, amino acids and fatty acids in healthy human individuals at rest and at different work loads. Scand J Clin Lab Invest, 13: 418, 1961. 6 Dent, C. E. and Walshe, J. M.: Amino acid metabolism. Brit Med Bull, 10: 247, 1954. 7 Evered, D. F.: The excretion of amino acids by the human. A quantitative study with ion-exchange chromatography. Biochem J, 62: 416, 1956. 8 FAO Nutritional Studies No. 16, Rome, 1957. 9 Felix, K., Leonardi, G. and Glasenapp, I.: Über Tyrosinosis. Hoppe-Seylers Z Physiol Chem, 287: 141, 1951. 10 Fritzell, S., Jagenburg, O. R. and Schnürer, L.-B.: Studium av aminosyreom-sättningen vid fall av Fanconis syndrom med levercirrhos. Nord Med, 61: 410, 1959. 11 Gentz, J., Jagenburg, O. R. and Zetterström, R.: Acta Paediat (Stockh). In press. 12 Gros, H. and Kirnberger, E. J.: Spontanausscheidung von p-Oxyphenylbrenz-traubensäure im Harn. Klin Wschr, 32: 115, 1954. 13 Himsworth, H. P.: The Liver and Its Diseases. 2nd ed. Blackwell Scientific Publications. Oxford , 1950. 14 Hsia, D. and Yi-Yung: Inborn Errors of Metabolism. The Year Book Publishers, Chicago , 1959. 15 Jagenburg, O. R.: The urinary excretion of free amino acids and other amino compounds by the human. Scand J Clin Lab Invest, 11: 1959, Suppl 43. 16 Kirsner, J. B., Sheffner, A. L., Palmer, W. L. and Bergeim, O.: Amino acids in plasma and urine of patients with hepatitis before and after a single infusion of protein hydrolysate. J Lab Clin Med, 36: 735, 1950. 17 Kotake, Y.: Über 1-Oxyphenylmilchsäure und ihr Vorkommen im Harn bei Phosphor-vergiftung. Hoppe-Seylers Z Physiol Chem, 65: 397, 1910. 18 Krebs, H. A.: Personal communication. 19 Lawrie, N. R.: The excretion of 1-(—)-tyrosine in urine. Biochem J, 41: 41, 1947. 20 Lelong, M., Alagille, D., Le Tan Vinh, Colin J., Roux, M., Gentil, Cl. and Gabilan, J.-C.: Cirrhose congénitale et familiale, rachitisme vitamino-résistant avec diabète gluco-phospho-aminé, hépatome terminal. Pédiatrie, 16: 221, 1961. 21 Levine, S. Z., Marples, E. and Gordon, H. H.: A defect on the metabolism of tyrosine and phenylalanine. J Clin Invest, 20: 209, 1941. 22 Lowe, C. U., Terrey, M. and MacLachlan, E. A.: Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Amer J Dis Child, 83: 164, 1952. 23 Luder, J. and Sheldon, W.: A familial tubular absorption defect of glucose and amino acids. Arch Dis Child, 30: 160, 1955. 24 McCune, D. J., Mason, H. H. and Clarke, H. T.: Intractable hypophosphatemic rickets with renal glycosuria and acidosis. Amer J Dis Child, 65: 81, 1943. 25 Medes, G.: A new error of tyrosine metabolism: Tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine. Biochem J, 26: 917, 1932. 26 Rowley, P. T., Mueller, P. S., Watkin, D. M. and Rosenberg, L. E.: Familial growth retardation, renal aminoaciduria and cor pulmonale. Amer J Med, 31: 187, 1961. 27 Royer, P., Bernhard, R., Bossiere, H., Maestraggi, P. and Roussel, A.: Cirrhose hépatique avec rachitisme secondaire et tyrosinurie. Pédiatrie, 16: 510, 1961. 28 Sakai, K. and Kitagawa, T.: An atypical case of tyrosinosis. Part 1. Clinical and laboratory findings. Jikei Med J, 2: 1, 1957. 29 Sakai, K. and Kitagawa, T.: An atypical case of tyrosinosis. Part 2. A research on the metabolic block. Jikei Med J, 2: 11, 1957. 30 Sakai, K., Kitagawa, T. and Yoshioka, K.: An atypical case of tyrosinosis. Part 3. The outcome of the patient; pathological and biochemical observations of the organ tissues. Jikei Med J, 6: 15, 1959. 31 Schreier, K.: Untersuchungen über den Aminosäurenstoffwechsel bei Erkrankungen der Leber. Dtsch Med Wschr, 76: 868, 1951. 32 Smith, I.: Chromatographic and Electro-phoretic Techniques, 2nd ed., Volume I, William Heinemann Medical Books, London , 1960. 33 Spackman, D. H., Stein, W. H. and Moore, S.: Chromatography of aminoacids on sulfonated polystyrene resins. Analyt Chem, 30: 1185, 1958. 34 Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S.: The Metabolic Basis of Inherited Disease. McGraw-Hill Book Company, New York , 1960. 35 Stein, W. H. and Moore, S.: The free amino acids of human blood plasma. J Biol Chem, 211: 915, 1954. 36 Stein, W. H.: Excretion of amino acids in cystinuria. Proc Soc Exp Biol (NY), 78: 705, 1951. 37 Stein, W. H., Bearn, A. G. and Moore, S.: The amino acid content of the blood and urine in Wilson's disease. J Clin Invest, 33: 410, 1954. 38 Stovers, J. M. and Dent, C. E.: Studies on the mechanism of the Fanconi syndrome. Quart J Med, 16: 275, 1947. 39 Tallan, H. H., Moore, S. and Stein, W. H.: Studies on the free amino acids and related compounds in the tissues of the cat. J Biol Chem. 211: 927, 1954. 40 Walshe, J. M.: Disturbances of aminoacid metabolism following liver injury. A study by means of paper chromatography. Quart J Med. 22: 483, 1953. Citing Literature Volume53, Issue1January 1964Pages 18-32 ReferencesRelatedInformation" @default.
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