Tyrosinosis

01/01/2020 - "It also significantly increased the tyrosine pool size in humans (P < .001), suggesting that NTBC increases tyrosine not just in serum but also in tissues (ie, acquired tyrosinosis). "
01/01/1932 - "A new error of tyrosine metabolism: tyrosinosis. "
01/01/1993 - "Richner-Hanhart syndrome, also called oculo-cutaneous tyrosinosis type II, is a recessive autosomal genodermatosis consecutive to a disorder of tyrosine metabolism. "
12/01/1977 - "Rats fed excess tyrosine develop corneal epithelial disease which parallels that found in humans with tyrosine aminotransferase deficiency (tyrosinosis). "
12/01/1975 - "Tyrosine-fed rats develop corneal disease which mimics that found in the human metabolic disorder, tyrosinosis. "

12/01/1981 - "[Association, in the same subject, of deletion of the short arm of chromosome 4 (4p-) and of complete deficiency of parahydroxyphenyl-pyruvate oxidase activity in the liver (tyrosinosis)]."
04/10/1965 - "STUDIES ON TYROSINOSIS: 2, ACTIVITY OF THE TRANSAMINASE, PARAHYDROXY-PHENYL-PYRUVATE OXIDASE, AND HOMOGENTISIC-ACID OXIDASE."

04/10/1965 - "STUDIES ON TYROSINOSIS: 2, ACTIVITY OF THE TRANSAMINASE, PARAHYDROXY-PHENYL-PYRUVATE OXIDASE, AND HOMOGENTISIC-ACID OXIDASE."

11/07/1964 - "STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET."

04/10/1965 - "STUDIES ON TYROSINOSIS: 2, ACTIVITY OF THE TRANSAMINASE, PARAHYDROXY-PHENYL-PYRUVATE OXIDASE, AND HOMOGENTISIC-ACID OXIDASE."

03/01/1972 - "The investigation of aromatic acids in phenylketonuria, alkaptonuria and tyrosinosis using gas-liquid chromatography."
02/01/1998 - "The heme precursor 5-aminolevulinic acid (ALA) accumulates under pathological conditions, namely, acute intermittent porphyria (AIP) and tyrosinosis, two diseases that are associated with increased liver cancer incidence. "
07/01/1996 - "We briefly review our hypothesis of an in vivo prooxidant role of 5-aminolevulinic acid (ALA), the heme precursor accumulated in several porphyric disorders (e.g., lead poisoning, acute intermittent porphyria (AIP), tyrosinosis). "
01/01/1996 - "5-Aminolevulinic acid (ALA), a heme precursor accumulated during the clinical expression of acute intermittent porphyria, lead poisoning, and tyrosinosis, has been hypothesized to act as an endogenous source of oxyradicals. "
02/05/1957 - "[Excretion of p-hydroxyphenylpyruvic acid, phenylpyruvic acid & other alpha-ketone acids in the urine of healthy humans, also a contribution to the problem of tyrosinosis]."

11/01/1975 - "A case of tyrosinosis due to lack of soluble tyrosine aminotransferase is described. "
07/01/1977 - "Clinical and biochemical evidence of oculocutaneous tyrosinosis, a rare disease due to hepatic soluble tyrosine aminotransferase (STAT) deficiency, was found in a 3 1/2-year-old girl and in her maternal aunt. "
07/01/1979 - "An enzyme defect in tyrosine aminotransferase (EC 2.6.1.5) or 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) is considered together with the possibility of a parallel between the disease in mink and the disease tyrosinosis or hereditary tyrosinemia in man."

02/01/1998 - "The heme precursor 5-aminolevulinic acid (ALA) accumulates under pathological conditions, namely, acute intermittent porphyria (AIP) and tyrosinosis, two diseases that are associated with increased liver cancer incidence. "
07/01/1996 - "We briefly review our hypothesis of an in vivo prooxidant role of 5-aminolevulinic acid (ALA), the heme precursor accumulated in several porphyric disorders (e.g., lead poisoning, acute intermittent porphyria (AIP), tyrosinosis). "
01/01/1996 - "5-Aminolevulinic acid (ALA), a heme precursor accumulated during the clinical expression of acute intermittent porphyria, lead poisoning, and tyrosinosis, has been hypothesized to act as an endogenous source of oxyradicals. "

05/01/1969 - "Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis."
03/01/1982 - "Blocks of pancreas were obtained from the following cases of errors of amino acid metabolism: eight cystinosis, eight tyrosinosis, five phenylketonuria, three hypermethioninemia, two hyperprolinemia and two maple syrup urine disease. "
07/26/1976 - "The influence of inborn errors of metabolism on the amino acid content, the structure and growth of human hair has been studied in patients suffering from Phenylketonuria, Cystinosis, Homocystinuria and Tyrosinosis. "

08/30/1974 - "Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis"."
07/01/1979 - "An enzyme defect in tyrosine aminotransferase (EC 2.6.1.5) or 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) is considered together with the possibility of a parallel between the disease in mink and the disease tyrosinosis or hereditary tyrosinemia in man."