Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

Molecular Genetics and Metabolism

Volumn 120, Issue 3, 2017, Pages 235-242

  Al Teneiji, Amal ^a   Bruun, Theodora U J ^a,b,c   Sidky, Sarah ^a   Cordeiro, Dawn ^a   Cohn, Ronald D ^a,b   Mendoza Londono, Roberto ^a,b   Moharir, Mahendranath ^a   Raiman, Julian ^d   Siriwardena, Komudi ^e   Kyriakopoulou, Lianna ^a   Mercimek Mahmutoglu, Saadet ^a,b,f  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF ALBERTA   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

Combined N and O glycosylation; Congenital disorders of glycosylation; N glycosylation; Transferrin isoelectric focusing

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 9; DIAZOXIDE; ESTROGEN; FOLLITROPIN; LUTEINIZING HORMONE; PROTEIN C; TRANSFERRIN; ISOPROTEIN;

ACADEMIC ACHIEVEMENT; ADOLESCENT; ADULT; ALG11 GENE; ALG3 GENE; ALG9 GENE; ARTICLE; ATAXIA; ATP6V0A2 GENE; BLOOD CLOTTING DISORDER; BRAIN ATROPHY; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2; CONGESTIVE CARDIOMYOPATHY; CORPUS CALLOSUM; COXA VALGA; COXA VARA; CROWDING (TOOTH); CUTIS LAXA; DARIER DISEASE; DELAYED PUBERTY; FAILURE TO THRIVE; FALLOT TETRALOGY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HEART VENTRICLE SEPTUM DEFECT; HIGH ARCHED PALATE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HYPERINSULINEMIA; HYPOALBUMINEMIA; HYPOGLYCEMIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOPLASIA; HYPOTHYROIDISM; ICHTHYOSIS; INFANTILE SPASM; ISOELECTRIC FOCUSING; KIDNEY CYST; KIDNEY HYPERTROPHY; KYPHOSIS; LIVER DYSFUNCTION; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MICROCEPHALY; MICROGYRIA; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MPDU1 GENE; MUSCLE HYPOTONIA; NEUROIMAGING; NEXT GENERATION SEQUENCING; NIPPLE MALFORMATION; OSTEOPENIA; OVARY INSUFFICIENCY; PERCEPTION DEAFNESS; PERICARDIAL EFFUSION; PHENOTYPE; PMM2 GENE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RETROGNATHIA; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SKIN FIBROBLAST; STRABISMUS; TONIC CLONIC SEIZURE; TRANSFERRIN BLOOD LEVEL; WHOLE EXOME SEQUENCING; YOUNG ADULT; CLASSIFICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA SEQUENCE; EXOME; GENE REGULATORY NETWORK; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; METABOLISM; PROCEDURES;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONGENITAL DISORDERS OF GLYCOSYLATION; EXOME; FEMALE; GENE REGULATORY NETWORKS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; PHENOTYPE; PROTEIN ISOFORMS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; TRANSFERRIN;

EID: 85009912628     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.12.014     Document Type: Article

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