Hyperostosis-hyperphosphatemia syndrome: A congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23

Journal of Bone and Mineral Research

Volumn 22, Issue 2, 2007, Pages 235-242

  Frishberg, Yaacov ^a   Ito, Nobuaki ^b   Rinat, Choni ^a   Yamazaki, Yuji ^c   Feinstein, Sofia ^a   Urakawa, Itaru ^c   Navon Elkan, Paulina ^a   Becker Cohen, Rachel ^a   Yamashita, Takeyoshi ^c   Araya, Kaori ^b   Igarashi, Takashi ^b   Fujita, Toshiro ^b   Fukumoto, Seiji ^b  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b UNIVERSITY OF TOKYO   (Japan)

^c KIRIN BREWERY CO LTD   (Japan)

Author keywords

Fibroblast growth factor; Glycation; Hyperphosphatemia; Proximal tubule; Vitamin D

Indexed keywords

CALCITRIOL; FIBROBLAST GROWTH FACTOR 23; GLYCAN DERIVATIVE; MUCIN; PARATHYROID HORMONE; SMALL INTERFERING RNA;

ADOLESCENT; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE PAIN; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; CONTROLLED STUDY; CORTICAL BONE; DISEASE SEVERITY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXPRESSION VECTOR; FEMALE; GALNT3 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC TRANSFECTION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPEROSTOSIS; HYPEROSTOSIS HYPERPHOSPHATEMIA SYNDROME; HYPERPHOSPHATEMIA; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NONHUMAN; PATHOGENESIS; PERIOSTEUM; PHOSPHATURIA; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING; RNA INTERFERENCE; SCHOOL CHILD; WESTERN BLOTTING;

AMINO ACID SEQUENCE; BLOTTING, WESTERN; ENZYME-LINKED IMMUNOSORBENT ASSAY; FIBROBLAST GROWTH FACTORS; GLYCOSYLATION; HUMANS; HYPEROSTOSIS; MOLECULAR SEQUENCE DATA; N-ACETYLGALACTOSAMINYLTRANSFERASES; NEOPLASM PROTEINS; PEPTIDE MAPPING; PHOSPHATES; RNA, SMALL INTERFERING; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; SYNDROME;

EID: 33846528466     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.061105     Document Type: Article

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