[1] |
SHWACHMAN H, DIAMOND LK, OSKI FA, et al. The syndrome of pancreatic insufficiency and bone marrow dysfunction[J]. J Pediatr, 1964, 65: 645-663. DOI: 10.1016/s0022-3476(64)80150-5.
|
[2] |
BODIAN M, SHELDON W, LIGHTWOOD R. Congenital hypoplasia of the exocrine pancreas[J]. Acta Paediatr, 1964, 53: 282-293. DOI: 10.1111/j.1651-2227.1964.tb07237.x.
|
[3] |
MINELLI A, NICOLIS E, CANNIOTO Z, et al. Incidence of Shwachman-Diamond syndrome[J]. Pediatr Blood Cancer, 2012, 59(7): 1334-1335. DOI: 10.1002/pbc.24260.
|
[4] |
BOOCOCK GR, MORRISON JA, 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.
|
[5] |
WARREN AJ. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome[J]. Adv Biol Regul, 2018, 67: 109-127. DOI: 10.1016/j.jbior.2017.09.002.
|
[6] |
NELSON AS, MYERS KC. 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.
|
[7] |
CIPOLLI M, TRIDELLO G, MICHELETTO A, et al. Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old[J]. BMJ Open, 2019, 9(1): e022617. DOI: 10.1136/bmjopen-2018-022617.
|
[8] |
HALL GW, DALE P, DODGE JA. Shwachman-Diamond syndrome: UK perspective[J]. Arch Dis Child, 2006, 91(6): 521-524. DOI: 10.1136/adc.2003.046151.
|
[9] |
LIU JM, LIPTON JM, MANI S. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back[J]. Ann N Y Acad Sci, 2011, 1242: 26-39. DOI: 10.1111/j.1749-6632.2011.06348.x.
|
[10] |
SAVAGE SA, DUFOUR C. Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia[J]. Semin Hematol, 2017, 54(2): 105-114. DOI: 10.1053/j.seminhematol.2017.04.004.
|
[11] |
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: 40-55. DOI: 10.1111/j.1749-6632.2011.06349.x.
|
[12] |
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.
|
[13] |
SCHABALLIE H, RENARD M, VERMYLEN C, et al. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome[J]. Eur J Pediatr, 2013, 172(5): 613-622. DOI: 10.1007/s00431-012-1908-0.
|
[14] |
TOIVIAINEN-SALO S, DURIE PR, 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.
|
[15] |
CAMACHO SM, MCLOUGHLIN L, NOWICKI MJ. Cirrhosis complicating Shwachman-Diamond syndrome: A case report[J]. World J Clin Cases, 2019, 7(12): 1456-1460. DOI: 10.12998/wjcc.v7.i12.1456.
|
[16] |
VEROPALUMBO C, CAMPANOZZI A, DE GREGORIO F, et al. Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease[J]. Clin Res Hepatol Gastroenterol, 2015, 39(1): e1-4. DOI: 10.1016/j.clinre.2014.06.017.
|
[17] |
BUCCIOL G, CASSIMAN D, ROSKAMS T, et al. Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome[J]. Orphanet J Rare Dis, 2018, 13(1): 69. DOI: 10.1186/s13023-018-0818-2.
|
[18] |
HAUET Q, BEAUPAIN B, MICHEAU M, et al. Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey[J]. Int J Cardiol, 2013, 167(3): 1048-1050. DOI: 10.1016/j.ijcard.2012.10.084.
|
[19] |
KOPEL L, GUTIERREZ PS, LAGE SG. Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome[J]. Cardiol Young, 2011, 21(5): 588-590. DOI: 10.1017/S1047951111000308.
|
[20] |
BOGUSZ-WÓJCIK A, KOłODZIEJCZYK H, MOSZCZYŃSKA E, et al. Endocrine dysfunction in children with Shwachman-Diamond syndrome[J]. Endokrynol Pol, 2021, 72(3): 211-216. DOI: 10.5603/EP.a2021.0014.
|
[21] |
ALBRECHT LA, GORGES SW, STYNE DM, et al. Shwachman-Diamond syndrome presenting as hypoglycemia[J]. Clin Pediatr (Phila), 2009, 48(2): 212-214. DOI: 10.1177/0009922808323114.
|
[22] |
KERR EN, ELLIS L, DUPUIS A, et al. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function[J]. J Pediatr, 2010, 156(3): 433-438. DOI: 10.1016/j.jpeds.2009.09.026.
|
[23] |
PEROBELLI S, ALESSANDRINI F, ZOCCATELLI G, et al. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach[J]. Neuroimage Clin, 2015, 7: 721-731. DOI: 10.1016/j.nicl.2015.02.014.
|
[24] |
IKUSE T, KUDO T, ARAI K, et al. Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan[J]. Pediatr Int, 2018, 60(8): 719-726. DOI: 10.1111/ped.13601.
|
[25] |
DELAPORTA P, SOFOCLEOUS C, ECONOMOU M, et al. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data[J]. Pediatr Blood Cancer, 2017, 64(11). DOI: 10.1002/pbc.26630.
|
[26] |
NICOLIS E, BONIZZATO A, ASSAEL BM, et al. Identification of novel mutations in patients with Shwachman-Diamond syndrome[J]. Hum Mutat, 2005, 25(4): 410. DOI: 10.1002/humu.9324.
|
[27] |
ANDOLINA JR, MORRISON CB, THOMPSON AA, et al. Shwachman-Diamond syndrome: diarrhea, no longer required?[J]. J Pediatr Hematol Oncol, 2013, 35(6): 486-489. DOI: 10.1097/MPH.0b013e3182667c13.
|
[28] |
MYERS KC, BOLYARD AA, 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.
|
[29] |
PICHLER J, MEYER R, KÖGLMEIER J, et al. Nutritional status in children with Shwachman-diamond syndrome[J]. Pancreas, 2015, 44(4): 590-595. DOI: 10.1097/MPA.0000000000000291.
|
[30] |
MYERS KC, FURUTANI E, WELLER E, et al. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study[J]. Lancet Haematol, 2020, 7(3): e238-e246. DOI: 10.1016/S2352-3026(19)30206-6.
|