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

Heinrich-Heine-University
Technical University of Munich
Helmholtz Zentrum München German Research Center for Environmental Health

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

14 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

Access to Document

10.1038/s41436-019-0677-9

Cite this

@article{79493aa1f09b492f9732441792812eab,

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",

year = "2020",

month = mar,

day = "1",

doi = "10.1038/s41436-019-0677-9",

language = "English",

volume = "22",

pages = "654--655",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier B.V.",

number = "3",

}

TY - JOUR

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

UR - https://www.scopus.com/pages/publications/85074346320

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

Access to Document

Other files and links

Cite this