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

Volumn 88, Issue 2, 2011, Pages 226-231

  Cario, Holger ^a   Smith, Desirée E C ^b   Blom, Henk ^b   Blau, Nenad ^c,d,e   Bode, Harald ^a   Holzmann, Karlheinz ^a   Pannicke, Ulrich ^f   Hopfner, Karl Peter ^g   Rump, Eva Maria ^f   Ayric, Zuleya ^h   Kohne, Elisabeth ^a   Debatin, Klaus Michael ^a   Smulders, Yvo ⁱ   Schwarz, Klaus ^f  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e Research Center for Children RCC   (Switzerland)

^f German Red Cross Blood Transfusion Service Baden Württemberg Hessen and University Hospital Ulm   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h Center for Diagnostics and Treatment of Epilepsy in Childhood and Adolescence   (Germany)

ⁱ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROFOLATE REDUCTASE; FLUORESCEIN; FOLIC ACID; MESSENGER RNA; METHOTREXATE;

ABSENCE; ARTICLE; BRAIN LEVEL; CELL IMMORTALIZATION; CEREBROSPINAL FLUID ANALYSIS; CHILD; CHROMOSOME 5; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPSTEIN BARR VIRUS; ERYTHROCYTE; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MEGALOBLASTIC ANEMIA; MUTATION; NEUROLOGIC DISEASE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TANDEM MASS SPECTROMETRY;

ANEMIA, MEGALOBLASTIC; CHILD; CHILD, PRESCHOOL; ERYTHROCYTES; FEMALE; FLUORESCEINS; FOLIC ACID; FOLIC ACID DEFICIENCY; HOMOZYGOTE; HUMANS; MALE; METHOTREXATE; MODELS, MOLECULAR; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PROTEIN CONFORMATION; TETRAHYDROFOLATE DEHYDROGENASE;

HUMAN HERPESVIRUS 4;

EID: 79851500161     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.007     Document Type: Article

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