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

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

doi:10.1038/s41436-019-0677-9

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

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

Medicine and Health

Research output: Contribution to journal › Letter › peer-review

9 Scopus citations

Original language	English
Pages (from-to)	654-655
Number of pages	2
Journal	Genetics in Medicine
Volume	22
Issue number	3
DOIs	https://doi.org/10.1038/s41436-019-0677-9
State	Published - 1 Mar 2020

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title = "Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia",

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

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T1 - Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

AU - Baertling, Fabian

AU - Wagner, Matias

AU - Brunet, Theresa

AU - Sabir, Hemmen

AU - Wieczorek, Dagmar

AU - Meitinger, Thomas

AU - Meissner, Thomas

AU - Distelmaier, Felix

PY - 2020/3/1

Y1 - 2020/3/1

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U2 - 10.1038/s41436-019-0677-9

DO - 10.1038/s41436-019-0677-9

M3 - Letter

C2 - 31641285

AN - SCOPUS:85074346320

SN - 1098-3600

VL - 22

SP - 654

EP - 655

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 3

ER -

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

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