SRD5A3-CDG: A patient with a novel mutation

European Journal of Paediatric Neurology

Volumn 16, Issue 5, 2012, Pages 554-556

  Kasapkara, C S ^a   Tumer L ^a   Ezgu F S ^a   Hasanolu, A ^a   Race, V ^b   Matthijs, G ^b   Jaeken, J ^b  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Novel mutation; Steroid 5 alpha reductase type 3 deficiency

Indexed keywords

PROTEIN C; STEROID 5ALPHA REDUCTASE; STEROID 5ALPHA REDUCTASE 3; TRANSFERRIN; UNCLASSIFIED DRUG;

ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; CARDIOMEGALY; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGESTIVE CARDIOMYOPATHY; CONVERGENT STRABISMUS; CRYPTORCHISM; EAR DYSPLASIA; ECHOCARDIOGRAPHY; EYE MALFORMATION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HEART LEFT VENTRICLE FAILURE; HOMOZYGOSITY; HUMAN; LIP MALFORMATION; MALE; MUSCLE HYPOTONIA; MUSCLE TONE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PAIN THRESHOLD; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PSYCHOMOTOR RETARDATION; SKIN DEFECT; THORAX RADIOGRAPHY; TURKEY (REPUBLIC); VISUAL IMPAIRMENT;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; CEREBELLAR ATAXIA; CEREBELLUM; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NYSTAGMUS, PATHOLOGIC; PSYCHOMOTOR DISORDERS;

EID: 84865149514     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.12.011     Document Type: Article

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