Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

H. Cario; D.E.C. Smith; H.J. Blom; N. Blau; H. Bode; K. Holzmann; U. Pannicke; K.P. Hopfner; E.M. Rump; Z. Ayric; E. Kohne; K.M. Debatin; Y.M. Smulders; K. Schwarz

doi:https://doi.org/10.1016/j.ajhg.2011.01.007

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

H. Cario, D.E.C. Smith, H.J. Blom, N. Blau, H. Bode, K. Holzmann, U. Pannicke, K.P. Hopfner, E.M. Rump, Z. Ayric, E. Kohne, K.M. Debatin, Y.M. Smulders, K. Schwarz

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

87 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	226-231
Journal	American journal of human genetics
Volume	88
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2011.01.007
Publication status	Published - 2011

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https://doi.org/10.1016/j.ajhg.2011.01.007

Cite this

Cario, H., Smith, D. E. C., Blom, H. J., Blau, N., Bode, H., Holzmann, K., Pannicke, U., Hopfner, K. P., Rump, E. M., Ayric, Z., Kohne, E., Debatin, K. M., Smulders, Y. M., & Schwarz, K. (2011). Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease. American journal of human genetics, 88(2), 226-231. https://doi.org/10.1016/j.ajhg.2011.01.007

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author = "H. Cario and D.E.C. Smith and H.J. Blom and N. Blau and H. Bode and K. Holzmann and U. Pannicke and K.P. Hopfner and E.M. Rump and Z. Ayric and E. Kohne and K.M. Debatin and Y.M. Smulders and K. Schwarz",

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Cario, H, Smith, DEC, Blom, HJ, Blau, N, Bode, H, Holzmann, K, Pannicke, U, Hopfner, KP, Rump, EM, Ayric, Z, Kohne, E, Debatin, KM, Smulders, YM & Schwarz, K 2011, 'Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease', American journal of human genetics, vol. 88, no. 2, pp. 226-231. https://doi.org/10.1016/j.ajhg.2011.01.007

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AU - Cario, H.

AU - Smith, D.E.C.

AU - Blom, H.J.

AU - Blau, N.

AU - Bode, H.

AU - Holzmann, K.

AU - Pannicke, U.

AU - Hopfner, K.P.

AU - Rump, E.M.

AU - Ayric, Z.

AU - Kohne, E.

AU - Debatin, K.M.

AU - Smulders, Y.M.

AU - Schwarz, K.

PY - 2011

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U2 - https://doi.org/10.1016/j.ajhg.2011.01.007

DO - https://doi.org/10.1016/j.ajhg.2011.01.007

M3 - Article

C2 - 21310277

SN - 0002-9297

VL - 88

SP - 226

EP - 231

JO - American journal of human genetics

JF - American journal of human genetics

IS - 2

ER -