Carbonic anhydrase type II deficiency.
Bolt
Roel J
RJ
Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.
Wennink
Janneke M B
JM
Verbeke
Jonathan I M L
JI
Shah
Gul N
GN
Sly
William S
WS
Bökenkamp
Arend
A
D015502:Absorptiometry, Photon; D000141:Acidosis, Renal Tubular / Q000188:drug therapy / Q000201:enzymology / Q000209:etiology*; D000293:Adolescent; D001639:Bicarbonates / Q000627:therapeutic use; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000473:pathology; D002118:Calcium / Q000652:urine; D024402:Carbonic Anhydrase II / Q000172:deficiency* / Q000235:genetics; D002421:Caudate Nucleus / Q000000981:diagnostic imaging / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005598:Fractures, Spontaneous / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000473:pathology; D050279:Metacarpal Bones / Q000000981:diagnostic imaging / Q000473:pathology; D009397:Nephrocalcinosis / Q000201:enzymology / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics; D009457:Neuroglia / Q000201:enzymology; D010006:Osteoblasts / Q000502:physiology; D010010:Osteoclasts / Q000502:physiology; D010022:Osteopetrosis / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D014057:Tomography, X-Ray Computed
D001639:Bicarbonates; D009419:Nerve Tissue Proteins; D024402:Carbonic Anhydrase II; D002118:Calcium