Lowe syndrome with anal atresia: A possible variant of OCRL?

Pediatrics International

Volumn 45, Issue 2, 2003, Pages 201-204

  Sönmez, Ferah ^a   Temoçýn, A Kübra ^a   Özkan, Seyhan B ^a   Akçanal, Betül ^a   Karaman, Can Z ^a   Türkmen, Münevver ^a   Inan, Gülten ^a  

^a ADNAN MENDERES UNIVERSITY   (Turkey)

Author keywords

Anal atresia; Congenital cataracts; Lowe syndrome (OCRL); Phosphatidylinositol 4 5 bisphosphate 5 phosphatase; Urinary N acetyl D galactosaminidase activity

Indexed keywords

SYNAPTOJANIN;

ANUS ATRESIA; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; ECHOGRAPHY; ELECTROMYOGRAPHY; ENZYME ASSAY; HUMAN; HUMAN CELL; LOWE SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST;

ANAL CANAL; FIBROBLASTS; HUMANS; INFANT; MALE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES;

EID: 18344416478     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2003.01697.x     Document Type: Article

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