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Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and contr...

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Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and contr...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2308176122

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

About this item

Full title

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

Author / Creator

Baertling, Fabian , Wagner, Matias , Brunet, Theresa , Sabir, Hemmen , Wieczorek, Dagmar , Meitinger, Thomas , Meissner, Thomas and Distelmaier, Felix

Publisher

New York: Elsevier Inc

Journal title

Genetics in medicine, 2020-03, Vol.22 (3), p.654-655

Language

English

Formats

Articles

Publication information

Publisher

New York: Elsevier Inc

Subjects

More information

Alternative Titles

Full title

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

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2308176122

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2308176122

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-019-0677-9

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