Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Siddharth Banka; Christian de Goede; Wyatt W Yue; Andrew A M Morris; Beate von Bremen; Kate E Chandler; René Feichtinger; Claire Hart; Nasaim Khan; Verena Lunzer; Lavinija Mataković; Thorsten Marquardt; Christine Makowski; Holger Prokisch; Otfried Debus; Kazuto Nosaka; Hemant Sonwalkar; Franz Zimmermann; Wolfgang Sperl; Johannes A. Mayr

doi:10.1016/j.ymgme.2014.09.010

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Siddharth Banka
, Christian de Goede
, Wyatt W Yue
, Andrew A M Morris
, Beate von Bremen
, Kate E Chandler
, René Feichtinger (Co-author)
, Claire Hart
, Nasaim Khan
, Verena Lunzer
, Lavinija Mataković
, Thorsten Marquardt
, Christine Makowski
, Holger Prokisch
, Otfried Debus
, Kazuto Nosaka
, Hemant Sonwalkar
, Franz Zimmermann (Co-author)
, Wolfgang Sperl (Co-author)
, Johannes A. Mayr (Last author)

Department of Pediatrics

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

48 Citations (Web of Science)

Original language	English
Pages (from-to)	301-306
Journal	MOLECULAR GENETICS AND METABOLISM
Volume	113
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2014.09.010
Publication status	Published - 2014

Access to Document

10.1016/j.ymgme.2014.09.010

Cite this

Banka, S., de Goede, C., Yue, W. W., Morris, A. A. M., von Bremen, B., Chandler, K. E., Feichtinger, R., Hart, C., Khan, N., Lunzer, V., Mataković, L., Marquardt, T., Makowski, C., Prokisch, H., Debus, O., Nosaka, K., Sonwalkar, H., Zimmermann, F., Sperl, W., & Mayr, J. A. (2014). Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. MOLECULAR GENETICS AND METABOLISM , 113(4), 301-306. https://doi.org/10.1016/j.ymgme.2014.09.010

Banka, Siddharth ; de Goede, Christian ; Yue, Wyatt W et al. / Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. In: MOLECULAR GENETICS AND METABOLISM 2014 ; Vol. 113, No. 4. pp. 301-306.

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title = "Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.",

author = "Siddharth Banka and \{de Goede\}, Christian and Yue, \{Wyatt W\} and Morris, \{Andrew A M\} and \{von Bremen\}, Beate and Chandler, \{Kate E\} and Ren{\'e} Feichtinger and Claire Hart and Nasaim Khan and Verena Lunzer and Lavinija Matakovi{\'c} and Thorsten Marquardt and Christine Makowski and Holger Prokisch and Otfried Debus and Kazuto Nosaka and Hemant Sonwalkar and Franz Zimmermann and Wolfgang Sperl and Mayr, \{Johannes A.\}",

note = "Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.",

year = "2014",

doi = "10.1016/j.ymgme.2014.09.010",

language = "English",

volume = "113",

pages = "301--306",

journal = "MOLECULAR GENETICS AND METABOLISM ",

issn = "1096-7192",

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number = "4",

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Banka, S, de Goede, C, Yue, WW, Morris, AAM, von Bremen, B, Chandler, KE, Feichtinger, R, Hart, C, Khan, N, Lunzer, V, Mataković, L, Marquardt, T, Makowski, C, Prokisch, H, Debus, O, Nosaka, K, Sonwalkar, H, Zimmermann, F , Sperl, W & Mayr, JA 2014, 'Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.', MOLECULAR GENETICS AND METABOLISM , vol. 113, no. 4, pp. 301-306. https://doi.org/10.1016/j.ymgme.2014.09.010

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. / Banka, Siddharth; de Goede, Christian; Yue, Wyatt W et al.
In: MOLECULAR GENETICS AND METABOLISM , Vol. 113, No. 4, 2014, p. 301-306.

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

TY - JOUR

T1 - Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

AU - Banka, Siddharth

AU - de Goede, Christian

AU - Yue, Wyatt W

AU - Morris, Andrew A M

AU - von Bremen, Beate

AU - Chandler, Kate E

AU - Feichtinger, René

AU - Hart, Claire

AU - Khan, Nasaim

AU - Lunzer, Verena

AU - Mataković, Lavinija

AU - Marquardt, Thorsten

AU - Makowski, Christine

AU - Prokisch, Holger

AU - Debus, Otfried

AU - Nosaka, Kazuto

AU - Sonwalkar, Hemant

AU - Zimmermann, Franz

AU - Sperl, Wolfgang

AU - Mayr, Johannes A.

N1 - Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.

PY - 2014

Y1 - 2014

U2 - 10.1016/j.ymgme.2014.09.010

DO - 10.1016/j.ymgme.2014.09.010

M3 - Original Article

C2 - 25458521

SN - 1096-7192

VL - 113

SP - 301

EP - 306

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

IS - 4

ER -

Banka S, de Goede C, Yue WW, Morris AAM, von Bremen B, Chandler KE et al. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. MOLECULAR GENETICS AND METABOLISM . 2014;113(4):301-306. doi: 10.1016/j.ymgme.2014.09.010