Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

Indian Journal of Human Genetics

Volumn 19, Issue 1, 2013, Pages 84-86

  Hadipour, Fatemeh ^a   Sarkheil, Peymaneh ^a   Noruzinia, Mehrdad ^c   Hadipour, Zahra ^a   Baghdadi, Taghi ^d   Shafeghati, Yousef ^a,b  

^a Sarem Women's Hospital   (Iran)

^b University of Social Welfare Sciences and Rehabilitation   (Iran)

^c TARBIAT MODARES UNIVERSITY   (Iran)

^d TMSU   (Iran)

Author keywords

Fanconi Bickel syndrome; glucose transporter 2gene; Iranian novel mutation; missed diagnosis of osteogenesis imperfecta

Indexed keywords

25 HYDROXYVITAMIN D; ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ALPHA 2 GLOBULIN; ASPARTATE AMINOTRANSFERASE; GLUCOSE TRANSPORTER 2; IMMUNOGLOBULIN; PAMIDRONIC ACID; PARATHYROID HORMONE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; ALPHA 1 ANTITRYPSIN DEFICIENCY; AMINOACIDURIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BONE PAIN; CALCIUM URINE LEVEL; CASE REPORT; CHILD; ECHOGRAPHY; FANCONI BICKEL SYNDROME; FANCONI RENOTUBULAR SYNDROME; FEMALE; FRACTURE; GALACTOSEMIA; GLUCOSURIA; GROWTH DISORDER; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERURICOSURIA; HYPOPHOSPHATEMIC RICKETS; IMMUNOGLOBULIN BLOOD LEVEL; INBORN ERROR OF METABOLISM; LIVER BIOPSY; LIVER FUNCTION TEST; METABOLIC ACIDOSIS; OSTEOGENESIS IMPERFECTA; PARATHYROID HORMONE BLOOD LEVEL; PATIENT REFERRAL; PHOSPHATURIA; PRESCHOOL CHILD; RARE DISEASE; TYROSINEMIA; VITAMIN BLOOD LEVEL; WILSON DISEASE;

EID: 84879667730     PISSN: 09716866     EISSN: 1998362X     Source Type: Journal    
DOI: 10.4103/0971-6866.112906     Document Type: Article

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