Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1802, Issue 7-8, 2010, Pages 639-648

  van Kuilenburg, André B P ^a   Dobritzsch, Doreen ^b   Meijer, Judith ^a   Meinsma, Rutger ^a   Benoist, Jean François ^c   Assmann, Birgit ^d   Schubert, Susanne ^e   Hoffmann, Georg F ^e   Duran, Marinus ^a   de Vries, Maaike C ^f   Kurlemann, Gerd ^g   Eyskens, François J M ^h   Greed, Lawrence ⁱ   Sass, Jörn Oliver ^j   Schwab, K Otfried ^j   Sewell, Adrian C ^k   Walter, John ^l   Hahn, Andreas ^m   Zoetekouw, Lida ^a   Ribes, Antonia ⁿ   Lind, Suzanne ^b   Hennekam, Raoul C M ^a   more..

^a EMMA CHILDREN S HOSPITAL   (Netherlands)

^b KAROLINSKA INSTITUTE   (Sweden)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h CEMA Antwerp   (Belgium)

ⁱ PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^j UNIVERSITY OF FREIBURG   (Germany)

^k UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^l ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^m JUSTUS LIEBIG UNIVERSITY   (Germany)

ⁿ Institut de Bioquimica Clinica Barcelona   (Spain)

more..

Author keywords

Crystal structure; Dihydropyrimidinase; DPYS; Functional and structural protein analysis; Neurological and gastrointestinal abnormalities

Indexed keywords

5,6 DIHYDROTHYMINE; 5,6 DIHYDROURACIL DERIVATIVE; DIHYDROPYRIMIDINASE; DPYS PROTEIN; MEMBRANE PROTEIN; THYMINE DERIVATIVE; UNCLASSIFIED DRUG; ZINC;

ADOLESCENT; ADULT; ARTICLE; BINDING SITE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; DIHYDROPYRIMIDINASE DEFICIENCY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; ESCHERICHIA COLI; EXON; FEMALE; GASTROINTESTINAL DISEASE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROLOGOUS EXPRESSION; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTANT; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STRUCTURE; SCHOOL CHILD; SPLICING DEFECT; URINALYSIS;

ADOLESCENT; ADULT; AMIDOHYDROLASES; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLIC DISEASES; MODELS, BIOLOGICAL; MODELS, MOLECULAR; PHENOTYPE; PROTEIN STABILITY; PROTEIN STRUCTURE, SECONDARY; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

ESCHERICHIA COLI;

EID: 77953808041     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2010.03.013     Document Type: Article

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