Literature DB >> 9700607

Fumarate hydratase deficiency.

E Bonioli1, A Di Stefano, V Peri, U Caruso, R Cerone, E Lamantea, F Taroni, C Bellini.   

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Year:  1998        PMID： 9700607     DOI： 10.1023/a:1005379330187

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


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  5 in total

1.  Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Authors:  N J Manning; S E Olpin; R J Pollitt; M Downing; A F Heeley; I D Young
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

Review 2.  Hereditary kidney cancer syndromes.

Authors:  Naomi B Haas; Katherine L Nathanson
Journal:  Adv Chronic Kidney Dis       Date:  2014-01       Impact factor: 3.620

Review 3.  Fumaric aciduria: an overview and the first Brazilian case report.

Authors:  Gabriella Allegri; Marcia J Fernandes; Fernanda B Scalco; Patricia Correia; Ruth E Simoni; Juan C Llerena; Maria L Costa de Oliveira
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

4.  A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

Authors:  Osman Baştuğ; Fatih Kardaş; Mehmet Adnan Öztürk; Hülya Halis; Şeyma Memur; Levent Korkmaz; Zuhal Tağ; Tamer Güneş
Journal:  Turk Pediatri Ars       Date:  2014-03-01

5.  Progressive Generalized Dystonia-Parkinsonism in a Child with Fumaric Aciduria.

Authors:  Diogo Reis-Carneiro; Conceição Robalo; Mário Laço; Marie Vidailhet; Luísa Diogo
Journal:  Mov Disord Clin Pract       Date:  2022-04-27
  5 in total

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