Literature DB >> 1357267

Neonatal screen for hereditary tyrosinaemia type I.

E Holme, S Lindstedt.   

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Year:  1992        PMID： 1357267     DOI： 10.1016/0140-6736(92)92724-t

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  7 in total

1.  Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.

Authors:  Víctor R De Jesús; Barbara W Adam; Daniel Mandel; Carla D Cuthbert; Dietrich Matern
Journal:  Mol Genet Metab       Date:  2014-07-17       Impact factor: 4.797

2.  Screening for tyrosinaemia type I.

Authors:  A C Hutchesson; S K Hall; M A Preece; A Green
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1996-05       Impact factor: 5.747

3.  Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.

Authors:  T C Gibbs; J Payan; E M Brett; S Lindstedt; E Holme; P T Clayton
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-10       Impact factor: 10.154

Review 4.  Tyrosinaemia--treatment and outcome.

Authors:  E A Kvittingen
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

5.  Clinical experience with hepatorenal tyrosinemia from a single Egyptian center.

Authors:  Hanaa El-Karaksy; Hala Mohsen Abdullatif; Carolyne Morcos Ghobrial; Engy Adel Mogahed; Noha Adel Yasin; Noha Talal; Mohamed Rashed
Journal:  PLoS One       Date:  2022-05-10       Impact factor: 3.752

6.  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

7.  A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.

Authors:  Dario Balestra; Daniela Scalet; Mattia Ferrarese; Silvia Lombardi; Nicole Ziliotto; Chrystal C Croes; Naomi Petersen; Piter Bosma; Federico Riccardi; Franco Pagani; Mirko Pinotti; Stan F J van de Graaf
Journal:  Int J Mol Sci       Date:  2020-03-20       Impact factor: 5.923
  7 in total

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