Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

American Journal of Human Genetics

Volumn 88, Issue 2, 2011, Pages 216-225

  Banka, Siddharth ^a   Blom, Henk J ^b   Walter, John ^a   Aziz, Majid ^c   Urquhart, Jill ^a   Clouthier, Christopher M ^d   Rice, Gillian I ^a   De Brouwer, Arjan P M ^e   Hilton, Emma ^a   Vassallo, Grace ^c   Will, Andrew ^c   Smith, Desirée E C ^b   Smulders, Yvo M ^b   Wevers, Ron A ^e   Steinfeld, Robert ^f   Heales, Simon ^g   Crow, Yanick J ^a   Pelletier, Joelle N ^d   Jones, Simon ^a   Newman, William G ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ST MARY S HOSPITAL   (United Kingdom)

^d UNIVERSITÉ DE MONTRÉAL   (Canada)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF GÖTTINGEN   (Germany)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROFOLATE REDUCTASE; FOLIC ACID; FOLINIC ACID; TETRAHYDROBIOPTERIN;

ARTICLE; BRAIN LEVEL; BRAIN METABOLISM; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; FOLATE METABOLISM; FOLIC ACID BLOOD LEVEL; FOLIC ACID DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; MEGALOBLASTIC ANEMIA; MISSENSE MUTATION; PANCYTOPENIA; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; ANEMIA, MEGALOBLASTIC; BASE SEQUENCE; BIOPTERIN; BRAIN; FEMALE; FOLIC ACID; FOLIC ACID DEFICIENCY; HUMANS; INFANT; LEUCOVORIN; MAGNETIC RESONANCE IMAGING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PANCYTOPENIA; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE HOMOLOGY, AMINO ACID; TETRAHYDROFOLATE DEHYDROGENASE;

EID: 79851503576     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.004     Document Type: Article

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