Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: Observation of a third case and further delineation

Clinical Dysmorphology

Volumn 14, Issue 1, 2005, Pages 7-11

  Bayar, Ahmet ^a,d   Acun, Ceyda ^a   Dursun, Ahmet ^a   Verhoeven, Nanda ^b   Bonafé, Luisa ^c   Keser, Selçuk ^a   Superti Furga, Andrea ^c  

^a ZONGULDAK KARAELMAS UNIVERSITY   (Turkey)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d ZONGULDAK KARAELMAS UNIVERSITY   (Turkey)

Author keywords

2 hydroxy glutaric aciduria; Metaphyseal enchondrodysplasia; Skeletal dysplasia; Spondyloenchondromatosis

Indexed keywords

2 HYDROXYGLUTARIC ACID; ALKALINE PHOSPHATASE; CALCIUM; CARBOXYLIC ACID; PARATHYROID HORMONE; PHOSPHATE;

2 HYDROXYGLUTARIC ACIDURIA; ACIDURIA; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; CLINODACTYLY; DIFFERENTIAL DIAGNOSIS; GAIT DISORDER; HUMAN; INFANT; MALE; METAPHYSIS; METAPHYSIS ENCHONDRODYSPLASIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OSSIFICATION; PRIORITY JOURNAL; RICKETS; SPINE RADIOGRAPHY; URINARY EXCRETION; VALGUS KNEE; VARUS KNEE;

GLUTARATES; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS; WALKING;

EID: 13244272294     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200501000-00002     Document Type: Article

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