Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 10, 2012, Pages

  Mannstadt, Michael ^a   Magen, Daniella ^b   Segawa, Hiroko ^a,d   Stanley, Takara ^a   Sharma, Amita ^a   Sasaki, Shohei ^d   Bergwitz, Clemens ^a   Mounien, Lourdes ^c   Boepple, Paul ^a   Thorens, Bernhard ^c   Zelikovic, Israel ^b   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; BICARBONATE; CALCITRIOL; CALCIUM; ERGOCALCIFEROL; GENOMIC DNA; GLUCOSE; GLUCOSE TRANSPORTER 2; PHOSPHATE; SODIUM PHOSPHATE COTRANSPORTER 2A; SODIUM PHOSPHATE COTRANSPORTER 2C;

ADOLESCENT; AMINOACIDURIA; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PROXIMAL TUBULOPATHY WITH HYPERCALCIURIA; CHILD; CHROMOSOME 3Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; FANCONI BICKEL SYNDROME; FEMUR FRACTURE; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GLUCOSE TRANSPORT; GLUCOSE TRANSPORTER 2 GENE; GLUCOSURIA; GROWTH DISORDER; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCIURIA; HYPOPHOSPHATEMIA; HYPOPHOSPHATEMIC RICKETS; IMPAIRED GLUCOSE TOLERANCE; INFANT; KIDNEY CALCIFICATION; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; MALE; METABOLIC ACIDOSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OOCYTE; PEDIGREE ANALYSIS; PHOSPHATE EXCRETION; PHOSPHATE TRANSPORT; PRESCHOOL CHILD; PRIORITY JOURNAL; RICKETS; SCHOOL CHILD; TRANSGENIC MOUSE; VALGUS KNEE; XENOPUS;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; FAMILY HEALTH; FANCONI SYNDROME; FEMALE; GENES, RECESSIVE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GLUCOSE TRANSPORTER TYPE 1; GLUCOSE TRANSPORTER TYPE 2; HUMANS; HYPERCALCIURIA; HYPOPHOSPHATEMIA, FAMILIAL; KIDNEY TUBULES, PROXIMAL; MALE; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; OOCYTES; PEDIGREE; RICKETS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIC; XENOPUS LAEVIS;

EID: 84867277177     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-1279     Document Type: Article

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