Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Molecular Genetics and Metabolism

Volumn 115, Issue 2-3, 2015, Pages 128-140

  Lam, Christina ^a   Golas, Gretchen A ^a   Davids, Mariska ^a   Huizing, Marjan ^a   Kane, Megan S ^a   Krasnewich, Donna M ^a   Malicdan, May Christine V ^a   Adams, David R ^a   Markello, Thomas C ^a   Zein, Wadih M ^a   Gropman, Andrea L ^a   Lodish, Maya B ^a   Stratakis, Constantine A ^a   Maric, Irina ^a   Rosenzweig, Sergio D ^a   Baker, Eva H ^a   Ferreira, Carlos R ^a   Danylchuk, Noelle R ^b   Kahler, Stephen ^b   Garnica, Adolfo D ^b   Bradley Schaefer, G ^b   Boerkoel, Cornelius F ^a   Gahl, William A ^a   Wolfe, Lynne A ^a   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b ARKANSAS CHILDREN S HOSPITAL   (United States)

Author keywords

Congenital disorder of glycosylation; Exome; Flow cytometry; Glycosylphosphatidylinositol anchor; Phenotype; PIGT CDG

Indexed keywords

CLONAZEPAM; CLONIDINE; DIAZEPAM; GLYCOSYLPHOSPHATIDYLINOSITOL; MESSENGER RNA; MIDAZOLAM; NEUROTRANSMITTER; PHENOBARBITAL; TOPIRAMATE; TRANSFERRIN; ACYLTRANSFERASE; COOH-TERMINAL SIGNAL TRANSAMIDASE;

APGAR SCORE; ARTICLE; ASTIGMATISM; BIRTH WEIGHT; BRAIN ATROPHY; CASE REPORT; CAUCASIAN; CEREBROSPINAL FLUID; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DISORDER OF GLYCOSYLATION; DEVELOPMENTAL DISORDER; ECHOCARDIOGRAPHY; FEMALE; FLOW CYTOMETRY; GENETIC SCREENING; HEAD CIRCUMFERENCE; HEARING DISORDER; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART DISEASE; HEART LEFT RIGHT SHUNT; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERTRIGLYCERIDEMIA; INTELLECTUAL IMPAIRMENT; INTRACTABLE EPILEPSY; JOINT LAXITY; KETOGENIC DIET; MALE; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; OSTEOPENIA; PATENT FORAMEN OVALE; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SECOND TRIMESTER PREGNANCY; SKELETON MALFORMATION; SKIN BIOPSY; TONIC CLONIC SEIZURE; VAGINAL DELIVERY; CHEMISTRY; CYTOLOGY; FIBROBLAST; FRAMESHIFT MUTATION; GENETICS; METABOLISM; MISSENSE MUTATION; SKIN;

ACYLTRANSFERASES; CHILD; DEVELOPMENTAL DISABILITIES; FIBROBLASTS; FRAMESHIFT MUTATION; GLYCOSYLPHOSPHATIDYLINOSITOLS; HETEROZYGOTE; HUMANS; MUSCLE HYPOTONIA; MUTATION, MISSENSE; SKIN;

EID: 84930182581     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.04.007     Document Type: Article

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