A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

Journal of Pediatrics

Volumn 183, Issue , 2017, Pages 170-177.e1

  Pérez Cerdá, Celia ^a   Girós, Ma Luisa ^b   Serrano, Mercedes ^c,d   Ecay, M Jesús ^a   Gort, Laura ^b   Pérez Dueñas, Belén ^c,d   Medrano, Celia ^a   García Alix, Alfredo ^e   Artuch, Rafael ^c,d   Briones, Paz ^b   Pérez, Belén ^a  

^a CSIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d Section of Gastroenterology   (Spain)

^e UNIVERSITY OF BARCELONA   (Spain)

Author keywords

CDG phenotypes; gene; mutation; PMM2 CDG; rare diseases

Indexed keywords

ADENOSINE TRIPHOSPHATASE; APOLIPOPROTEIN C3; ARGININE; ASPARAGINE; CYSTEINE; DOLICHOL; GLUCOSYLTRANSFERASE; GLUTAMINE; GLYCAN; GUANINE NUCLEOTIDE BINDING PROTEIN; ISOLEUCINE; ISOPROTEIN; LIPOOLIGOSACCHARIDE; MANNOSE PHOSPHATE ISOMERASE; METHIONINE; NUCLEOTIDE; PHENYLALANINE; PHOSPHOGLUCOMUTASE; PHOSPHOMANNOMUTASE; PROLINE; THREONINE; TRANSFERRIN; TYROSINE; VALINE; ACYLTRANSFERASE; APOC4 PROTEIN, HUMAN; APOLIPOPROTEIN C; GENETIC MARKER; PROTEIN N-TERMINAL ACETYLTRANSFERASE;

ARTICLE; BIOCHEMICAL ANALYSIS; BIOSYNTHESIS; BLOOD ANALYSIS; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; HOMEOSTASIS; HUMAN; INFANT; ISOELECTRIC FOCUSING; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MORTALITY; PHENOTYPE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SPAIN; SYSTEMIC DISEASE; COHORT ANALYSIS; COMPARATIVE STUDY; CONGENITAL DISORDERS OF GLYCOSYLATION; FACTUAL DATABASE; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; INCIDENCE; METABOLISM; MUTATION; NEWBORN; PROCEDURES; RETROSPECTIVE STUDY; RISK ASSESSMENT;

ACETYLTRANSFERASES; APOLIPOPROTEINS C; COHORT STUDIES; CONGENITAL DISORDERS OF GLYCOSYLATION; DATABASES, FACTUAL; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MUTATION; RETROSPECTIVE STUDIES; RISK ASSESSMENT; SPAIN;

EID: 85010874825     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.12.060     Document Type: Article

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