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 journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)226-231
JournalAmerican journal of human genetics
Volume88
Issue number2
DOIs
Publication statusPublished - 2011

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. / Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease. In: American journal of human genetics. 2011 ; Vol. 88, No. 2. pp. 226-231.
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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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Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease. / 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.

In: American journal of human genetics, Vol. 88, No. 2, 2011, p. 226-231.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

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

Y1 - 2011

U2 - 10.1016/j.ajhg.2011.01.007

DO - 10.1016/j.ajhg.2011.01.007

M3 - Article

VL - 88

SP - 226

EP - 231

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 2

ER -