The neurology of rhizomelic chondrodysplasia punctata

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Bams Mengerink, Annemieke M ^a   Koelman, Johannes H T M ^b   Waterham, Hans ^b   Barth, Peter G ^a   Poll The, Bwee Tien ^a,c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c Meibergdreef 9   (Netherlands)

Author keywords

Epilepsy; Evoked potentials; Intellectual disability; Peroxisome; Plasmalogen; Rhizomelic chondrodysplasia punctata; Skeletal dysplasia

Indexed keywords

PLASMALOGEN;

ARTICLE; BIOCHEMICAL COMPOSITION; BONE DYSPLASIA; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; COHORT ANALYSIS; COMMUNICATION SKILL; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROENCEPHALOGRAPHY; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; GENOTYPE; HUMAN; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; LATENT PERIOD; NERVE CELL DIFFERENTIATION; NEUROLOGY; NEUROPHYSIOLOGY; OBSERVATIONAL STUDY; ONSET AGE; PHENOTYPE; PREDICTIVE VALUE; SEIZURE; SKILL; TENDON REFLEX; VERBAL COMMUNICATION;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; FEMALE; HUMANS; MALE;

EID: 84886575730     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-174     Document Type: Article

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