Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report

Author:

Driessen G J A,Gerritsen E J A,Fischer A,Fasth A,Hop W C J,Veys P,Porta F,Cant A,Steward C G,Vossen J M,Uckan D,Friedrich W

Publisher

Springer Science and Business Media LLC

Subject

Transplantation,Hematology

Reference34 articles.

1. Gerritsen EJA, Vossen JM, Loo IHG van et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994; 93: 247–253.

2. Frattini A, Orchard PJ, Sobacchi C et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis (Letter). Nat Genet 2000; 25: 343–346.

3. Sobacchi C, Frattini A, Orchard P et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001; 10: 1767–1773.

4. Sly WS . The carbonic anhydrase II deficiency syndrome: osteopetrosis with renal tubular acidosis and cerebral calcifications. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic Basis of Inherited Disease, vol. II, McGraw-Hill: New York, 2001, pp 5331–5343.

5. Kornak U, Kasper D, Bosl MR et al. Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001; 104: 205–215.

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