Outcome of tyrosinaemia type III

Journal of Inherited Metabolic Disease

Volumn 24, Issue 8, 2001, Pages 824-832

  Ellaway, C J ^a   Holme, E ^b   Standing, S ^c   Preece, M A ^d   Green, A ^d   Ploechl, E ^e   Ugarte, M ^f   Trefz, F K ^g   Leonard, J V ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e St Johanns Spital   (Austria)

^f UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^g UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; CYCLOHEXANE DERIVATIVE; NITISINONE; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID METABOLISM; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; CORNEA EROSION; DIET THERAPY; DRUG MECHANISM; ENZYME DEFICIENCY; EYE MALFORMATION; FEMALE; HUMAN; KIDNEY FUNCTION; LIVER FUNCTION; MALE; NEUROLOGIC DISEASE; NEWBORN PERIOD; NEWBORN SCREENING; OUTCOMES RESEARCH; PHOTOPHOBIA; PROTEIN RESTRICTION; SYMPTOMATOLOGY; TYROSINEMIA;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLIGENCE; MALE; NEONATAL SCREENING; TREATMENT OUTCOME; TYROSINE; TYROSINEMIAS;

EID: 0035721235     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1013936107064     Document Type: Article

References (14)

1. Tyrosinaemia type III: Diagnosis and ten year follow-up
2. Autoimmune thyroiditis in a case of tyrosinaemia III
3. Immunological abnormalities in a patient with tyrosinaemia type III
4. 4-Hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: A new variant of hereditary hypertyrosinaemia
5. Presentation of the data of the Italian registry for oculocutaneous tyrosinemia
6. Chronic tyrosinaemia associated with 4-hydroxyphenylpruvate dioxygenase deficiency with acute intermittent ataxia and without visceral and bone involvement
7. Tyrosinaemia type 1 and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione)
8. Abnormalities of biogenic amine metabolism
9. Neurochemistry and defects of biogenic amine neurotransmitter metabolism
10. A new case of tyrosinaemia type III detected by neonatal screening
11. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinaemia type III
12. Tyrosinaemia type III detected by neonatal screening
13. Mutations in the 4-Hydroxyphenylpyruvic acid dehydrogenase gene are responsible for tyrosinaemia type III and hawkinisinuria
14. Hereditary tyrosinaemia type I: A new clinical classification with difference in prognosis on dietary treatment