Literature DB >> 31641285

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia.

Fabian Baertling1, Matias Wagner2,3,4, Theresa Brunet2, Hemmen Sabir1, Dagmar Wieczorek5, Thomas Meitinger2,3, Thomas Meissner1, Felix Distelmaier6.   

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Year:  2019        PMID： 31641285     DOI： 10.1038/s41436-019-0677-9

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  1 in total

1.  Carbonic Anhydrase-VA Deficiency: A Close Mimicker of Urea Cycle Disorders.

Authors:  Bhanudeep Singanamalla; Arushi Gahlot Saini; Savita Verma Attri; Renu Suthar; Kanya Mukhopadhyay
Journal:  Ann Indian Acad Neurol       Date:  2021-03-18       Impact factor: 1.383
  1 in total

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