Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

Matthias Eckenweiler; Johannes A. Mayr; Sarah Grünert; Angela Abicht; Rudolf Korinthenberg

doi:10.1055/s-0040-1715631

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

Matthias Eckenweiler, Johannes A. Mayr (Co-author), Sarah Grünert, Angela Abicht, Rudolf Korinthenberg

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

7 Citations (Web of Science)

Original language	English
Pages (from-to)	123-125
Journal	NEUROPEDIATRICS
Volume	52
Issue number	2
DOIs	https://doi.org/10.1055/s-0040-1715631
Publication status	Published - 2021

Keywords

PYROPHOSPHOKINASE DEFICIENCY
DISEASE
IDENTIFICATION
EXPRESSION

Access to Document

10.1055/s-0040-1715631

Cite this

Eckenweiler, M., Mayr, J. A., Grünert, S., Abicht, A., & Korinthenberg, R. (2021). Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. NEUROPEDIATRICS , 52(2), 123-125. https://doi.org/10.1055/s-0040-1715631

Eckenweiler, Matthias ; Mayr, Johannes A. ; Grünert, Sarah et al. / Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. In: NEUROPEDIATRICS 2021 ; Vol. 52, No. 2. pp. 123-125.

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title = "Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.",

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author = "Matthias Eckenweiler and Mayr, \{Johannes A.\} and Sarah Gr{\"u}nert and Angela Abicht and Rudolf Korinthenberg",

note = "Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria",

year = "2021",

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language = "English",

volume = "52",

pages = "123--125",

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Eckenweiler, M, Mayr, JA, Grünert, S, Abicht, A & Korinthenberg, R 2021, 'Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.', NEUROPEDIATRICS , vol. 52, no. 2, pp. 123-125. https://doi.org/10.1055/s-0040-1715631

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. / Eckenweiler, Matthias; Mayr, Johannes A. (Co-author); Grünert, Sarah et al.
In: NEUROPEDIATRICS , Vol. 52, No. 2, 2021, p. 123-125.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

AU - Eckenweiler, Matthias

AU - Mayr, Johannes A.

AU - Grünert, Sarah

AU - Abicht, Angela

AU - Korinthenberg, Rudolf

N1 - Mayr: Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria

PY - 2021

Y1 - 2021

KW - PYROPHOSPHOKINASE DEFICIENCY

KW - DISEASE

KW - IDENTIFICATION

KW - EXPRESSION

U2 - 10.1055/s-0040-1715631

DO - 10.1055/s-0040-1715631

M3 - Original Article

C2 - 33086386

SN - 0174-304X

VL - 52

SP - 123

EP - 125

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 2

ER -

Eckenweiler M, Mayr JA, Grünert S, Abicht A, Korinthenberg R. Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants. NEUROPEDIATRICS . 2021;52(2):123-125. doi: 10.1055/s-0040-1715631