Carbonic anhydrase type II deficiency.

Bolt, Roel J; Wennink, Janneke M B; Verbeke, Jonathan I M L; Shah, Gul N; Sly, William S; Bökenkamp, Arend

Bolt, Roel J; Wennink, Janneke M B; Verbeke, Jonathan I M L; Shah, Gul N; Sly, William S; Bökenkamp, Arend.

Affiliation

Bolt RJ; Department of Pediatrics, VU University Medical Center, Amsterdam, The Netherlands.

Am J Kidney Dis ; 46(5): A50, e71-3, 2005 Nov.

Article in En | MEDLINE | ID: mdl-16265785

Subject(s)

Acidosis, Renal Tubular/etiology; Carbonic Anhydrase II/deficiency; Absorptiometry, Photon; Acidosis, Renal Tubular/drug therapy; Acidosis, Renal Tubular/enzymology; Adolescent; Bicarbonates/therapeutic use; Calcinosis/diagnostic imaging; Calcinosis/pathology; Calcium/urine; Carbonic Anhydrase II/genetics; Caudate Nucleus/diagnostic imaging; Caudate Nucleus/pathology; Consanguinity; DNA Mutational Analysis; Female; Fractures, Spontaneous/diagnostic imaging; Fractures, Spontaneous/etiology; Humans; Lumbar Vertebrae/diagnostic imaging; Lumbar Vertebrae/pathology; Metacarpal Bones/diagnostic imaging; Metacarpal Bones/pathology; Nephrocalcinosis/enzymology; Nephrocalcinosis/genetics; Nerve Tissue Proteins/deficiency; Nerve Tissue Proteins/genetics; Neuroglia/enzymology; Osteoblasts/physiology; Osteoclasts/physiology; Osteopetrosis/complications; Osteopetrosis/diagnostic imaging; Osteopetrosis/enzymology; Osteopetrosis/genetics; Osteopetrosis/pathology; Point Mutation; Tomography, X-Ray Computed

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PubMed Links

Database: MEDLINE Main subject: Acidosis, Renal Tubular / Carbonic Anhydrase II Type of study: Etiology_studies Language: En Year: 2005 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Acidosis, Renal Tubular / Carbonic Anhydrase II Type of study: Etiology_studies Language: En Year: 2005 Type: Article