Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Brain

Volumn 137, Issue 4, 2014, Pages 1030-1038

  Van Scherpenzeel, Monique ^a   Timal, Sharita ^a   Rymen, Daisy ^b   Hoischen, Alexander ^a   Wuhrer, Manfred ^c,d   Hipgrave Ederveen, Agnes ^c   Grunewald, Stephanie ^e   Peanne, Romain ^b   Saada, Ann ^f   Edvardson, Shimon ^f   Grønborg, Sabine ^g   Ruijter, George ^h   Kattentidt Mouravieva, Anna ^h   Brum, Jaime Moritz ⁱ   Freckmann, Mary Louise ^j   Tomkins, Susan ^k   Jalan, Anil ^l   Prochazkova, Dagmar ^m   Ondruskova, Nina ⁿ   Hansikova, Hana ⁿ   Willemsen, Michel A ^a   Hensbergen, Paul J ^c   Matthijs, Gert ^b   Wevers, Ron A ^a   Veltman, Joris A ^a   Morava, Eva ^o   Lefeber, Dirk J ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY AMSTERDAM   (Netherlands)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^g Mental Health Services CPH   (Denmark)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^j CANBERRA HOSPITAL   (Australia)

^k MUSGROVE PARK HOSPITAL   (United Kingdom)

^l Department of NIRMAN   (India)

^m MASARYK UNIVERSITY   (Czech Republic)

ⁿ CHARLES UNIVERSITY   (Czech Republic)

^o TULANE UNIVERSITY   (United States)

more..

Author keywords

biomarker; congenital disorders of glycosylation; glycomics; intellectual disability; MAN1B1 (EC 3.2.1.113)

Indexed keywords

ALPHA 1 ANTITRYPSIN; ALPHA MANNOSIDASE; GLYCAN DERIVATIVE; IMMUNOGLOBULIN; MANNOSIDASE; PROTEIN; PROTEIN MAN 1B1; TRANSFERRIN; UNCLASSIFIED DRUG; MAN1 PROTEIN, HUMAN; MEMBRANE PROTEIN; NUCLEAR PROTEIN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM BINDING; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; ENZYME ACTIVITY; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MALE; MASS SPECTROMETRY; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR WEIGHT; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; OBESITY; PARTIAL THROMBOPLASTIN TIME; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; SPEECH DEVELOPMENT; STOP CODON; STRABISMUS; TRANSFERRIN BLOOD LEVEL; YOUNG ADULT; BLOOD; DEFICIENCY; GENETICS; GLYCOSYLATION; INFANT; INTELLECTUAL DISABILITY; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOSYLATION; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; MUTATION; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 84897585843     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu019     Document Type: Article

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