Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Sietske H. Kevelam; Jorgen Bierau; Ramona Salvarinova; Shakti Agrawal; Tomas Honzik; Dennis Visser; Marjan M. Weiss; Gajja S. Salomons; Truus E. M. Abbink; Quinten Waisfisz; Marjo S. van der Knaap

doi:10.1002/ana.24496

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Sietske H. Kevelam, Jorgen Bierau, Ramona Salvarinova, Shakti Agrawal, Tomas Honzik, Dennis Visser, Marjan M. Weiss, Gajja S. Salomons, Truus E. M. Abbink, Quinten Waisfisz, Marjo S. van der Knaap^*

^*Corresponding author for this work

GROW - Reproductive and Perinatal Medicine

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

Original language	English
Pages (from-to)	649-658
Journal	Annals of Neurology
Volume	78
Issue number	4
DOIs	https://doi.org/10.1002/ana.24496
Publication status	Published - Oct 2015

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10.1002/ana.24496

Cite this

@article{293a15270e0d41f9be29ca1939726c90,

title = "Recessive ITPA Mutations Cause an Early Infantile Encephalopathy",

author = "Kevelam, {Sietske H.} and Jorgen Bierau and Ramona Salvarinova and Shakti Agrawal and Tomas Honzik and Dennis Visser and Weiss, {Marjan M.} and Salomons, {Gajja S.} and Abbink, {Truus E. M.} and Quinten Waisfisz and {van der Knaap}, {Marjo S.}",

year = "2015",

month = oct,

doi = "10.1002/ana.24496",

language = "English",

volume = "78",

pages = "649--658",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "4",

}

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy. / Kevelam, Sietske H.; Bierau, Jorgen; Salvarinova, Ramona; Agrawal, Shakti; Honzik, Tomas; Visser, Dennis; Weiss, Marjan M.; Salomons, Gajja S.; Abbink, Truus E. M.; Waisfisz, Quinten; van der Knaap, Marjo S.

In: Annals of Neurology, Vol. 78, No. 4, 10.2015, p. 649-658.

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

TY - JOUR

T1 - Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

AU - Kevelam, Sietske H.

AU - Bierau, Jorgen

AU - Salvarinova, Ramona

AU - Agrawal, Shakti

AU - Honzik, Tomas

AU - Visser, Dennis

AU - Weiss, Marjan M.

AU - Salomons, Gajja S.

AU - Abbink, Truus E. M.

AU - Waisfisz, Quinten

AU - van der Knaap, Marjo S.

PY - 2015/10

Y1 - 2015/10

U2 - 10.1002/ana.24496

DO - 10.1002/ana.24496

M3 - Article

C2 - 26224535

VL - 78

SP - 649

EP - 658

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 4

ER -