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congenital neutropenia syndrome相关文献:
A new severe congenital neutropenia syndrome associated with autosomal recessive COPZ1 mutations.
Borbaran Bravo N, Deordieva E, Doll L, ElGamacy M, Dannenmann B, Azevedo J, Iannuzzo A, Delafontaine S, Lehners M, Kolodziej M, Hernandez Alvarez B, Hellmuth AS, Ritter M, Findik B, Zakharova V, Bräuning S, Kandabarau S, Lengerke C, Feil R, Meyts I, Delon J, Templin M, Sturm M, Rieß O, Zeidler C, Welte K, Shcherbina A, Klimiankou M, Skokowa J.
Blood. 2025 May 15;145(20):2317-2335. doi: 10.1182/blood.2023022576.
PMID:39642330
Congenital neutropenia.
Ancliff PJ.
Blood Rev. 2003 Dec;17(4):209-16. doi: 10.1016/s0268-960x(03)00019-5.
PMID:14556775
Congenital neutropenia.
Klein C.
Hematology Am Soc Hematol Educ Program. 2009:344-50. doi: 10.1182/asheducation-2009.1.344.
PMID:20008220
Kostmann syndrome and severe congenital neutropenia.
Zeidler C, Welte K.
Semin Hematol. 2002 Apr;39(2):82-8. doi: 10.1053/shem.2002.31913.
PMID:11957189
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C.
Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007.
PMID:18424332
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K.
Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32.
PMID:28593997
Congenital neutropenia.
Christensen RD, Calhoun DA.
Clin Perinatol. 2004 Mar;31(1):29-38. doi: 10.1016/j.clp.2004.03.011.
PMID:15183654
Diagnosis and management of neutropenia.
Min KI, Byeon S.
Blood Res. 2025 May 26;60(1):30. doi: 10.1007/s44313-025-00079-1.
PMID:40418265
Diagnostic guidance for hereditary neutropenia in children: Narrative literature review.
Kasmi Z, El Bakkouri J, Ailal F, Oukkache B, Donadieu J, Bousfiha AA.
Tunis Med. 2023 Jul 5;101(7):591-596.
PMID:38445418
Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
Parisi X, Bledsoe JR.
J Clin Pathol. 2024 Aug 16;77(9):586-604. doi: 10.1136/jcp-2022-208686.
PMID:38589208
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