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Molecular Genetics and Metabolism Reports

Volumn 2, Issue , 2015, Pages 16-19

ALG11-CDG: Three novel mutations and further characterization of the phenotype

(10) Regal, L a Van Hasselt, P M b Foulquier, F c Cuppen, I b Prinsen, Hcmt b Jansen, K a Keldermans, L d De Meirleir, L e Matthijs, G d Jaeken, J a

a UNIVERSITY HOSPITALS LEUVEN (Belgium)

b UNIVERSITY MEDICAL CENTER UTRECHT (Netherlands)

c UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE (France)

d CENTER FOR HUMAN GENETICS (Belgium)

e UNIVERSITY HOSPITAL BRUSSELS (Belgium)

Author keywords

ALG11 CDG; Burst suppression EEG; Neuronal heterotopia

Indexed keywords

CORTICOTROPIN; ETIRACETAM; MIDAZOLAM; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ANTICONVULSANT THERAPY; ARTICLE; BRAIN ATROPHY; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONTINUOUS INFUSION; ELECTROENCEPHALOGRAM; FAILURE TO THRIVE; FEEDING DIFFICULTY; HETEROTOPIA; HETEROZYGOSITY; HUMAN; LETHALITY; MALE; MICROCEPHALY; MISSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; PSYCHOMOTOR DISORDER; RETINA DYSTROPHY; SEIZURE;

EID: 84923233586 PISSN: None EISSN: 22144269 Source Type: Journal
DOI: 10.1016/j.ymgmr.2014.11.006 Document Type: Article

Times cited : (17)

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