Literature DB >> 1664010

Type I hereditary tyrosinaemia: presentation of 11 cases.

T Coşkun1, I Ozalp, N Koçak, A Yüce, M Caglar, R Berger.   

Abstract

Diagnostic information is supplied for the early detection of subacute and chronic forms of type I tyrosinaemia.

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Year:  1991        PMID： 1664010     DOI： 10.1007/bf01799947

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  12 in total

1.  STUDIES ON TYROSINOSIS: 1, EFFECT OF LOW-TYROSINE AND LOW-PHENYLALANINE DIET.

Authors:  S HALVORSEN; L R GJESSING
Journal:  Br Med J       Date:  1964-11-07

2.  The chemical estimation of tyrosine and tyramine.

Authors:  S UDENFRIEND; J R COOPER
Journal:  J Biol Chem       Date:  1952-05       Impact factor: 5.157

3.  Long-term dietary treatment of tyrosinosis.

Authors:  S Aronsson; G Engleson; R Jagenburg; B Palmgren
Journal:  J Pediatr       Date:  1968-05       Impact factor: 4.406

4.  The occurrence of hepatoma in the chronic form of hereditary tyrosinemia.

Authors:  A G Weinberg; C E Mize; H G Worthen
Journal:  J Pediatr       Date:  1976-03       Impact factor: 4.406

5.  Experience with 37 infants with tyrosinemia.

Authors:  J Larochelle; A Mortezai; M Belanger; M Tremblay; J C Claveau; G Aubin
Journal:  Can Med Assoc J       Date:  1967-10-28       Impact factor: 8.262

6.  Hereditary tyrosinemia and tyrosyluria: clinical report of four patients.

Authors:  C R Scriver; M Silverberg; C L Clow
Journal:  Can Med Assoc J       Date:  1967-10-28       Impact factor: 8.262

7.  [Tyrosinosis. A difficult diagnosis of late infancy].

Authors:  M F Bertolani; A M Pellegrino; C Summa; E Scalera
Journal:  Minerva Pediatr       Date:  1990 Jan-Feb       Impact factor: 1.312

8.  Neurologic crises in hereditary tyrosinemia.

Authors:  G Mitchell; J Larochelle; M Lambert; J Michaud; A Grenier; H Ogier; M Gauthier; J Lacroix; M Vanasse; A Larbrisseau
Journal:  N Engl J Med       Date:  1990-02-15       Impact factor: 91.245

Review 9.  Pitfalls in the initial diagnosis of tyrosinemia: three case reports and a review of the literature.

Authors:  K J Goulden; M A Moss; D E Cole; G A Tithecott; J F Crocker
Journal:  Clin Biochem       Date:  1987-06       Impact factor: 3.281

10.  Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels.

Authors:  C F Strife; E L Zuroweste; E A Emmett; V N Finelli; H G Petering; H K Berry
Journal:  J Pediatr       Date:  1977-03       Impact factor: 4.406
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  5 in total

Review 1.  The little imitator--porphyria: a neuropsychiatric disorder.

Authors:  H L Crimlisk
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

2.  Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.

Authors:  H Rootwelt; R Berger; G Gray; D A Kelly; T Coşkun; E A Kvittingen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

3.  Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

Authors:  H Rootwelt; J Chou; W A Gahl; R Berger; T Coşkun; E Brodtkorb; E A Kvittingen
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

4.  Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Authors:  Sebene Mayorandan; Uta Meyer; Gülden Gokcay; Nuria Garcia Segarra; Hélène Ogier de Baulny; Francjan van Spronsen; Jiri Zeman; Corinne de Laet; Ute Spiekerkoetter; Eva Thimm; Arianna Maiorana; Carlo Dionisi-Vici; Dorothea Moeslinger; Michaela Brunner-Krainz; Amelie Sophia Lotz-Havla; José Angel Cocho de Juan; Maria Luz Couce Pico; René Santer; Sabine Scholl-Bürgi; Hanna Mandel; Yngve Thomas Bliksrud; Peter Freisinger; Luis Jose Aldamiz-Echevarria; Michel Hochuli; Matthias Gautschi; Jessica Endig; Jens Jordan; Patrick McKiernan; Stefanie Ernst; Susanne Morlot; Arndt Vogel; Johannes Sander; Anibh Martin Das
Journal:  Orphanet J Rare Dis       Date:  2014-08-01       Impact factor: 4.123

Review 5.  Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Authors:  Anibh Martin Das
Journal:  Appl Clin Genet       Date:  2017-07-24
  5 in total

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