Aspartylglucosaminuria: Unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a turkish family

Journal of Child Neurology

Volumn 29, Issue 1, 2014, Pages 36-42

  Opladen, Thomas ^a   Ebinger, Friedrich ^a,b   Zschocke, Johannes ^c   Sengupta, Devjani ^a   Ben Omran, Tawfeg ^d   Shahbeck, Noora ^d   Moog, Ute ^e   Fischer, Christine ^e   Bürger, Friederike ^a   Haas, Dorothea ^a   Ruef, Peter ^f   Harting, Inga ^a   Al Rifai, Hilal ^d   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b St Vincenz Hospital   (Germany)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d HAMAD MEDICAL CORPORATION   (Qatar)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f SLK Kliniken Heilbronn   (Germany)

Author keywords

AGA gene mutation; aspartylglucosaminidase; aspartylglucosaminuria; neonatal presentation

Indexed keywords

N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ARTICLE; ASPARTYLGLYCOSAMINURIA; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; BRAIN DISEASE; CASE REPORT; CONSANGUINEOUS MARRIAGE; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; MUSCLE HYPOTONIA; NEWBORN; PERINATAL PERIOD; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; QATAR; SPEECH DELAY; TURKEY (REPUBLIC); TWINS;

AGA GENE MUTATION; ASPARTYLGLUCOSAMINIDASE; ASPARTYLGLUCOSAMINURIA; NEONATAL PRESENTATION;

ADOLESCENT; ASPARTYLGLUCOSAMINURIA; ASPARTYLGLUCOSYLAMINASE; BRAIN; CONSANGUINITY; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; QATAR; TURKEY; TWINS;

EID: 84891768251     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812469049     Document Type: Article

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