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Volumn 39, Issue 5, 2016, Pages 713-723
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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
a,b
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Author keywords
[No Author keywords available]
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Indexed keywords
AMINOTRANSFERASE;
ANTITHROMBIN III;
BLOOD CLOTTING FACTOR 9;
CORTICOTROPIN;
GLUCOSE;
HYDROCORTISONE;
IMMUNOGLOBULIN G;
LAMOTRIGINE;
MELATONIN;
OCTREOTIDE;
THYROID HORMONE;
VALPROIC ACID;
VIGABATRIN;
ALG6 PROTEIN, HUMAN;
GLUCOSYLTRANSFERASE;
MEMBRANE PROTEIN;
ADOLESCENT;
ADULT;
AGGRESSION;
ALLELE;
ALPHA 1,3 GLUCOSYLTRANSFERASE CONGENITAL DISORDER OF GLYCOSYLATION;
AMINOTRANSFERASE BLOOD LEVEL;
ANEMIA;
ARACHNODACTYLY;
ARTICLE;
ATAXIA;
AUTISM;
BEHAVIOR CHANGE;
BEHAVIOR DISORDER;
BLEEDING TIME;
BLOOD CLOTTING DISORDER;
BRACHYDACTYLY;
BRAIN ATROPHY;
BRAIN MALFORMATION;
CALORIC INTAKE;
CEREBELLUM ATROPHY;
CHILD;
CLINICAL ARTICLE;
COMMUNICATION DISORDER;
COMPULSION;
CONGENITAL DISORDER OF GLYCOSYLATION;
CONGESTIVE CARDIOMYOPATHY;
CORPUS CALLOSUM AGENESIS;
DANDY WALKER SYNDROME;
DEPRESSION;
DEVELOPMENTAL DISORDER;
EPILEPSY;
EPILEPTIC STATE;
FACE DYSMORPHIA;
FAILURE TO THRIVE;
FOCAL EPILEPSY;
GENETIC BACKGROUND;
GENOTYPE PHENOTYPE CORRELATION;
GLUCOSE BLOOD LEVEL;
HEMOSTASIS;
HEPATOSPLENOMEGALY;
HETEROZYGOSITY;
HOMOZYGOSITY;
HUMAN;
HYDROCORTISONE BLOOD LEVEL;
HYPERINSULINISM;
HYPERTELORISM;
HYPOALBUMINEMIA;
HYPOGLYCEMIA;
IMMUNOGLOBULIN BLOOD LEVEL;
INFANT;
INFANTILE SPASM;
INTELLECTUAL IMPAIRMENT;
INTRACTABLE EPILEPSY;
KETOGENIC DIET;
LIMB MALFORMATION;
MICROCEPHALY;
MISSENSE MUTATION;
MOOD CHANGE;
MUSCLE HYPOTONIA;
MUSCLE WEAKNESS;
MYOCLONUS SEIZURE;
NEUROIMAGING;
NEWBORN;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NYSTAGMUS;
PHENOTYPE;
PRESCHOOL CHILD;
PROTEIN LOSING GASTROENTEROPATHY;
RECURRENT DISEASE;
RETROSPECTIVE STUDY;
SCHOOL CHILD;
SCOLIOSIS;
SEPSIS;
SKIN BRUISING;
SLEEP DISORDER;
SOCIAL INTERACTION;
SPEECH DELAY;
STRABISMUS;
STRABISMUS SURGERY;
THYROID HORMONE BLOOD LEVEL;
TONIC CLONIC SEIZURE;
TOOTH EXTRACTION;
VISUAL IMPAIRMENT;
YOUNG ADULT;
FEMALE;
GENETIC ASSOCIATION STUDY;
GENETICS;
GLYCOSYLATION;
MALE;
MENTAL DISEASE;
PATHOLOGY;
PROCEDURES;
SEIZURE;
ADOLESCENT;
ADULT;
ATAXIA;
CHILD;
CHILD, PRESCHOOL;
CONGENITAL DISORDERS OF GLYCOSYLATION;
EPILEPSY;
FEMALE;
GENETIC ASSOCIATION STUDIES;
GLUCOSYLTRANSFERASES;
GLYCOSYLATION;
HUMANS;
INFANT;
INFANT, NEWBORN;
LIMB DEFORMITIES, CONGENITAL;
MALE;
MEMBRANE PROTEINS;
MENTAL DISORDERS;
MUSCLE HYPOTONIA;
MUSCLE WEAKNESS;
PHENOTYPE;
RETROSPECTIVE STUDIES;
SEIZURES;
YOUNG ADULT;
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EID: 84973630047
PISSN: 01418955
EISSN: 15732665
Source Type: Journal
DOI: 10.1007/s10545-016-9945-x Document Type: Article |
Times cited : (35)
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References (12)
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