Literature DB >> 7278885

Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy.

B Wilcken, J W Hammond, N Howard, T Bohane, C Hocart, B Halpern.   

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Year:  1981        PMID： 7278885     DOI： 10.1056/NEJM198110083051505

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  3 in total

1.  Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Authors:  Natalia Gomez-Ospina; Anna I Scott; Gia J Oh; Donald Potter; Veena V Goel; Lauren Destino; Nancy Baugh; Gregory M Enns; Anna-Kaisa Niemi; Tina M Cowan
Journal:  J Inherit Metab Dis       Date:  2016-08-03       Impact factor: 4.982

2.  Three-generational alkaptonuria in a non-consanguineous family.

Authors:  K Oexle; K Engel; S Tinschert; D Haas; M A Lee-Kirsch
Journal:  J Inherit Metab Dis       Date:  2008-12-22       Impact factor: 4.982

Review 3.  Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.

Authors:  Héctor Cruz-Camino; Diana Laura Vazquez-Cantu; Alexandra Vanessa Zea-Rey; Jaime López-Valdez; Jorge Jiménez-Lozano; René Gómez-Gutiérrez; Consuelo Cantú-Reyna
Journal:  J Int Med Res       Date:  2019-07-25       Impact factor: 1.671
  3 in total

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