[1] |
SHWACHMAN H, DIAMOD L K, OSKI F A,et al. The Syndrome of pancreatic insufficiency and bone marow dysfunction[J]. J Pediatr. 1964,65:645-663. DOI:10.1016/s0022-3476(64)80150-5.
|
[2] |
FAROOQUI S M, WARD R, AZIZ M. Shwachman-Diamond Syndrome[EB/OL].(2021-07-25)[2021-09-11]. .
|
[3] |
BOOCOCK G R, MORRISON J A, POPOVIC M,et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome[J]. Nat Genet,2003,33(1):97-101. DOI:10.1038/ng1062.
|
[4] |
CARAPITO R, KONANTZ M, PAILLARD C,et al. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features[J]. J Clin Invest,2017,127(11):4090-4103. DOI:10.1172/jci92876.
|
[5] |
MORINI J, NACCI L, BABINI G,et al. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations[J]. Br J Haematol,2019,185(3):627-630. DOI:10.1111/bjh.15594.
|
[6] |
GIJSBERS A, GARCÍA-MÁRQUEZ A, LUVIANO A,et al. Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome[J]. Biochem Biophys Res Commun,2013,437(3):349-354. DOI:10.1016/j.bbrc.2013.06.077.
|
[7] |
NELSON A S, MYERS K C. Diagnosis,treatment,and molecular pathology of shwachman-diamond syndrome[J]. Hematol Oncol Clin North Am,2018,32(4):687-700. DOI:10.1016/j.hoc.2018.04.006.
|
[8] |
DROR Y, FREEDMAN M H. Shwachman-Diamond syndrome:an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment[J]. Blood,1999,94(9):3048-3054.
|
[9] |
BEZZERRI V, CIPOLLI M. Shwachman-diamond syndrome: molecular mechanisms and current perspectives[J]. Mol Diagn Ther,2019,23(2):281-290. DOI:10.1007/s40291-018-0368-2.
|
[10] |
CESARO S, PILLON M, SAUER M,et al. Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome:a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)[J]. Bone Marrow Transplant,2020,55(9):1796-1809. DOI:10.1038/s41409-020-0863-z.
|
[11] |
BURROUGHS L M, SHIMAMURA A, TALANO J A,et al. Allogeneic hematopoietic cell transplantation using treosulfan-based conditioning for treatment of marrow failure disorders[J]. Biol Blood Marrow Transplant,2017,23(10):1669-1677. DOI:10.1016/j.bbmt.2017.06.002.
|
[12] |
CESARO S, ONETO R, MESSINA C,et al. Haematopoietic stem cell transplantation for Shwachman-Diamond disease:a study from the European Group for blood and marrow transplantation[J]. Br J Haematol,2005,131(2):231-236. DOI:10.1111/j.1365-2141.2005.05758.x.
|
[13] |
GLUCKMAN E, WAGNER J E. Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome[J]. Bone Marrow Transplant,2008,41(2):127-32. DOI:10.1038/sj.bmt.1705960.
|
[14] |
周锦,郭姝,王国丽,等. 儿童Shwachman-Diamond综合征4例临床特点及基因分析[J]. 中国实用儿科杂志,2019,34(1):50-52. DOI:10.19538/j.ek2019010615.
|
[15] |
SHANKAR R K, GIRI N, LODISH M B,et al. Bone mineral density in patients with inherited bone marrow failure syndromes[J]. Pediatr Res,2017,82(3):458-464. DOI:10.1038/pr.2017.117.
|
[16] |
DROR Y, DONADIEU J, KOGLMEIER J,et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome[J]. Ann N Y Acad Sci,2011,1242(1):40-55. DOI:10.1111/j.1749-6632.2011.06349.x.
|
[17] |
IP W F, DUPUIS A, ELLIS L,et al. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome[J]. J Pediatr,2002,141(2):259-265. DOI:10.1067/mpd.2002.125849.
|
[18] |
MYERS K C, BOLYARD A A, OTTO B,et al. Variable clinical presentation of Shwachman-Diamond syndrome:update from the North American Shwachman-Diamond Syndrome Registry[J]. J Pediatr,2014,164(4):866-870. DOI:10.1016/j.jpeds.2013.11.039.
|
[19] |
NORMATOV I, SENTONGO T. Pancreatic malnutrition in children[J]. Pediatr Ann,2019,48(11):e441-447. DOI:10.3928/19382359-20191018-01.
|
[20] |
TOIVIAINEN-SALO S, DURIE P R, NUMMINEN K,et al. The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood[J]. J Pediatr,2009,155(6):807-811.e2. DOI:10.1016/j.jpeds.2009.06.047.
|
[21] |
TOIVIAINEN-SALO S, MÄYRÄNPÄÄ M K, DURIE P R,et al. Shwachman-Diamond syndrome is associated with low-turnover osteoporosis[J]. Bone,2007,41(6):965-972. DOI:10.1016/j.bone.2007.08.035.
|