OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts

World Journal of Pediatrics

Volumn 7, Issue 3, 2011, Pages 280-283

  Lozanovski, Vladimir J ^a,c   Ristoska Bojkovska, N ^a   Korneti, P ^b   Gucev, Z ^a   Tasic, V ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^b SS CYRIL AND METHODIUS UNIVERSITY OF SKOPJE   (Macedonia)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Cataracts; CLCN5; Dent disease; Lowe syndrome; OCRL1

Indexed keywords

BETA 2 MICROGLOBULIN; CALCIUM; CHLORIDE CHANNEL; CHLORIDE CHANNEL 5; CREATINE KINASE; FUROSEMIDE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE; SUCCIMER TC 99M; UNCLASSIFIED DRUG;

ADULT; AMINOACIDURIA; ARTICLE; CALCIUM EXCRETION; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DENT DISEASE; ENZYME ACTIVITY; GENE MUTATION; GENE SEQUENCE; HEMATURIA; HUMAN; HYPERCALCIURIA; LOWE SYNDROME; MALE; MENTAL DEFICIENCY; OCRL1 GENE; PHENOTYPE; PROTEINURIA; SKIN FIBROBLAST; URINALYSIS; WESTERN BLOTTING;

CATARACT; CHILD, PRESCHOOL; DENT DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; SEVERITY OF ILLNESS INDEX;

EID: 80054992468     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-011-0312-6     Document Type: Article

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