Костманов синдром (Serbian Wikipedia)
Analysis of information sources in references of the Wikipedia article "Костманов синдром" in Serbian language version.
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doi.org
doi.org
- Joazlina, Z. Y.; Wastie, M. L.; Kamarulzaman, A. (1. 9. 2005). „Kostmann's syndrome”. Clinical Imaging. 29 (5): 364—366. ISSN 0899-7071. PMID 16153548. doi:10.1016/j.clinimag.2005.01.031.
- McKusick, Victor A. (1966), „Autosomal Recessive Phenotypes”, Mendelian Inheritance in Man, Elsevier, стр. 139—246, ISBN 9781483166797, doi:10.1016/b978-1-4831-6679-7.50009-6, Приступљено 2022-02-20
- Christensen, Robert D.; Calhoun, Darlene A. (2004). „Congenital neutropenia”. Clinics in Perinatology. 31 (1): 29—38. PMID 15183654. doi:10.1016/j.clp.2004.03.011.
- Kostmann, Rolf (1956). „Infantile Genetic Agranulocytosis (Agranulocytosis infantilis hereditaria) A New Recessive Lethal Disease in Man”. Acta Paediatrica. 45 (3): 309—310. PMID 13326376. S2CID 71420679. doi:10.1111/j.1651-2227.1956.tb06875.x.
- Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela; Sandrock, Inga; Schäffer, Alejandro A.; Rathinam, Chozhavendan; Boztug, Kaan; Schwinzer, Beate; Rezaei, Nima; Bohn, Georg; Melin, Malin; Carlsson, Göran; Fadeel, Bengt; Dahl, Niklas; Palmblad, Jan; Henter, Jan-Inge; Zeidler, Cornelia; Grimbacher, Bodo; Welte, Karl (2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nature Genetics. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (јануар 2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nat Genet. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Connelly, J. A.; Choi, S. W.; Levine, J. E. (јануар 2012). „Hematopoietic stem cell transplantation for severe congenital neutropenia.”. Curr Opin Hematol. 19 (1): 44—51. PMC 3291495
. PMID 22080845. doi:10.1097/MOH.0b013e32834da96e. - Xia, J.; Bolyard, A. A.; Rodger, E.; Stein, S.; Aprikyan, A. A.; Dale, D. C.; Link, D. C. (новембар 2009). „Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.”. Br J Haematol. 147 (4): 535—42. PMC 2783282 . PMID 19775295. doi:10.1111/j.1365-2141.2009.07888.x.
- Zeidler, Cornelia; Welte, Karl (2002). „Kostmann syndrome and severe congenital neutropenia”. Seminars in Hematology. 39 (2): 82—88. PMID 11957189. doi:10.1053/shem.2002.31913..
- Xia J, Bolyard AA, Rodger E et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009. Xia, J.; Bolyard, A. A.; Rodger, E.; Stein, S.; Aprikyan, A. A.; Dale, D. C.; Link, D. C. (2009). „Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia”. British Journal of Haematology. 147 (4): 535—542. PMC 2783282 . PMID 19775295. doi:10.1111/j.1365-2141.2009.07888.x.
- Germeshausen, M.; Deerberg, S.; Peter, Y.; Reimer, C.; Kratz, C. P.; Ballmaier, M. (2013). „The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia”. Human Mutation. 34 (6): 905—914. PMID 23463630. S2CID 3484630. doi:10.1002/humu.22308.
- Stepensky, Polina; Saada, Ann; Cowan, Marianne; Tabib, Adi; Fischer, Ute; Berkun, Yackov; Saleh, Hani; Simanovsky, Natalia; Kogot-Levin, Aviram; Weintraub, Michael; Ganaiem, Hamam; Shaag, Avraham; Zenvirt, Shamir; Borkhardt, Arndt; Elpeleg, Orly; Bryant, Nia J.; Mevorach, Dror (2013). „The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy”. Blood. 121 (25): 5078—5087. PMID 23599270. S2CID 8868549. doi:10.1182/blood-2012-12-475566..
- McDermott, D. H.; De Ravin, S. S.; Jun, H. S.; Liu, Q.; Priel, D. A.; Noel, P.; Takemoto, C. M.; Ojode, T.; Paul, S. M.; Dunsmore, K. P.; Hilligoss, D.; Marquesen, M.; Ulrick, J.; Kuhns, D. B.; Chou, J. Y.; Malech, H. L.; Murphy, P. M. (2010). „Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis”. Blood. 116 (15): 2793—3502. PMC 2974587 . PMID 20616219. doi:10.1182/blood-2010-01-265942.
- McDermott, D. H.; De Ravin, S. S.; Jun, H. S.; Liu, Q.; Priel, D. A.; Noel, P.; Takemoto, C. M.; Ojode, T.; Paul, S. M.; Dunsmore, K. P.; Hilligoss, D.; Marquesen, M.; Ulrick, J.; Kuhns, D. B.; Chou, J. Y.; Malech, H. L.; Murphy, P. M. (2010). „Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis”. Blood. 116 (15): 2793—3502. PMC 2974587 . PMID 20616219. doi:10.1182/blood-2010-01-265942.
- Fioredda, F.; Calvillo, M.; Lanciotti, M.; Lanza, T.; Giunti, L.; Castagnola, E.; Lorenzi, I.; Tonelli, R.; Ghezzi, P.; Dufour, C. (март 2010). „Pegfilgrastim in children with severe congenital neutropenia”. Pediatr Blood Cancer. 54 (3): 465—7. PMID 19927291. S2CID 20156801. doi:10.1002/pbc.22350.
- Choi, L. M.; Guelcher, C.; Guerrera, M. F. (2007-12-01). „Novel treatment for severe congenital neutropenia with pegfilgrastim”. Blood. 110 (12): 4134. PMID 18024801. doi:10.1182/blood-2007-08-106807.
- Lähteenmäki, P. M.; Jahnukainen, K.; Pelliniemi, T. T.; Kainulainen, L.; Salmi, T. T. (јануар 2009). „Severe congenital neutropenia and pegfilgrastim”. Eur J Haematol. 82 (1): 75—6. PMID 18774955. S2CID 32430813. doi:10.1111/j.1600-0609.2008.01145.x..
- Beaupain, B.; Leblanc, T.; Reman, O.; Hermine, O.; Vannier, J. P.; Suarez, F.; Lutz, P.; Bordigoni, P.; Jourdain, A.; Schoenvald, M.; Ouachee, M.; François, S.; Kohser, F.; Jardin, F.; Devouassoux, G.; Bertrand, Y.; Nove-Josserand, R.; Donadieu, J.; French Scn Registry, Service d'Hémato Oncologie Pédiatrique (децембар 2009). „Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry”. Pediatr Blood Cancer. 53 (6): 1068—73. PMID 19618456. S2CID 2631862. doi:10.1002/pbc.22147.
- Ward, A. C.; Dale, D. C. (јануар 2009). „Genetic and molecular diagnosis of severe congenital neutropenia”. Curr Opin Hematol. 16 (1): 9—13. PMC 2720320 . PMID 19057199. doi:10.1097/MOH.0b013e32831952de.
dx.doi.org
- McKusick, Victor A. (1966), „Autosomal Recessive Phenotypes”, Mendelian Inheritance in Man, Elsevier, стр. 139—246, ISBN 9781483166797, doi:10.1016/b978-1-4831-6679-7.50009-6, Приступљено 2022-02-20
medscape.com
emedicine.medscape.com
- Huynh N, Peter (2022-01-11). „Kostmann Disease: Epidemiology”. Emedicine.medscape.
- „Kostmann Disease Treatment & Management: Medical Care, Surgical Care, Consultations”. emedicine.medscape.com. 2022-01-11.
nih.gov
ncbi.nlm.nih.gov
- Dale DC, Makaryan V (2018) [2002]. „ELANE-Related Neutropenia”. GeneReviews. PMID 20301705. Приступљено 2019-08-12.
- Joazlina, Z. Y.; Wastie, M. L.; Kamarulzaman, A. (1. 9. 2005). „Kostmann's syndrome”. Clinical Imaging. 29 (5): 364—366. ISSN 0899-7071. PMID 16153548. doi:10.1016/j.clinimag.2005.01.031.
- Christensen, Robert D.; Calhoun, Darlene A. (2004). „Congenital neutropenia”. Clinics in Perinatology. 31 (1): 29—38. PMID 15183654. doi:10.1016/j.clp.2004.03.011.
- Kostmann, Rolf (1956). „Infantile Genetic Agranulocytosis (Agranulocytosis infantilis hereditaria) A New Recessive Lethal Disease in Man”. Acta Paediatrica. 45 (3): 309—310. PMID 13326376. S2CID 71420679. doi:10.1111/j.1651-2227.1956.tb06875.x.
- Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela; Sandrock, Inga; Schäffer, Alejandro A.; Rathinam, Chozhavendan; Boztug, Kaan; Schwinzer, Beate; Rezaei, Nima; Bohn, Georg; Melin, Malin; Carlsson, Göran; Fadeel, Bengt; Dahl, Niklas; Palmblad, Jan; Henter, Jan-Inge; Zeidler, Cornelia; Grimbacher, Bodo; Welte, Karl (2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nature Genetics. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (јануар 2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nat Genet. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Connelly, J. A.; Choi, S. W.; Levine, J. E. (јануар 2012). „Hematopoietic stem cell transplantation for severe congenital neutropenia.”. Curr Opin Hematol. 19 (1): 44—51. PMC 3291495 . PMID 22080845. doi:10.1097/MOH.0b013e32834da96e.
- Xia, J.; Bolyard, A. A.; Rodger, E.; Stein, S.; Aprikyan, A. A.; Dale, D. C.; Link, D. C. (новембар 2009). „Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.”. Br J Haematol. 147 (4): 535—42. PMC 2783282 . PMID 19775295. doi:10.1111/j.1365-2141.2009.07888.x.
- Zeidler, Cornelia; Welte, Karl (2002). „Kostmann syndrome and severe congenital neutropenia”. Seminars in Hematology. 39 (2): 82—88. PMID 11957189. doi:10.1053/shem.2002.31913..
- Xia J, Bolyard AA, Rodger E et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol. 2009. Xia, J.; Bolyard, A. A.; Rodger, E.; Stein, S.; Aprikyan, A. A.; Dale, D. C.; Link, D. C. (2009). „Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia”. British Journal of Haematology. 147 (4): 535—542. PMC 2783282 . PMID 19775295. doi:10.1111/j.1365-2141.2009.07888.x.
- Germeshausen, M.; Deerberg, S.; Peter, Y.; Reimer, C.; Kratz, C. P.; Ballmaier, M. (2013). „The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia”. Human Mutation. 34 (6): 905—914. PMID 23463630. S2CID 3484630. doi:10.1002/humu.22308.
- Stepensky, Polina; Saada, Ann; Cowan, Marianne; Tabib, Adi; Fischer, Ute; Berkun, Yackov; Saleh, Hani; Simanovsky, Natalia; Kogot-Levin, Aviram; Weintraub, Michael; Ganaiem, Hamam; Shaag, Avraham; Zenvirt, Shamir; Borkhardt, Arndt; Elpeleg, Orly; Bryant, Nia J.; Mevorach, Dror (2013). „The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy”. Blood. 121 (25): 5078—5087. PMID 23599270. S2CID 8868549. doi:10.1182/blood-2012-12-475566..
- McDermott, D. H.; De Ravin, S. S.; Jun, H. S.; Liu, Q.; Priel, D. A.; Noel, P.; Takemoto, C. M.; Ojode, T.; Paul, S. M.; Dunsmore, K. P.; Hilligoss, D.; Marquesen, M.; Ulrick, J.; Kuhns, D. B.; Chou, J. Y.; Malech, H. L.; Murphy, P. M. (2010). „Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis”. Blood. 116 (15): 2793—3502. PMC 2974587 . PMID 20616219. doi:10.1182/blood-2010-01-265942.
- McDermott, D. H.; De Ravin, S. S.; Jun, H. S.; Liu, Q.; Priel, D. A.; Noel, P.; Takemoto, C. M.; Ojode, T.; Paul, S. M.; Dunsmore, K. P.; Hilligoss, D.; Marquesen, M.; Ulrick, J.; Kuhns, D. B.; Chou, J. Y.; Malech, H. L.; Murphy, P. M. (2010). „Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis”. Blood. 116 (15): 2793—3502. PMC 2974587 . PMID 20616219. doi:10.1182/blood-2010-01-265942.
- Fioredda, F.; Calvillo, M.; Lanciotti, M.; Lanza, T.; Giunti, L.; Castagnola, E.; Lorenzi, I.; Tonelli, R.; Ghezzi, P.; Dufour, C. (март 2010). „Pegfilgrastim in children with severe congenital neutropenia”. Pediatr Blood Cancer. 54 (3): 465—7. PMID 19927291. S2CID 20156801. doi:10.1002/pbc.22350.
- Choi, L. M.; Guelcher, C.; Guerrera, M. F. (2007-12-01). „Novel treatment for severe congenital neutropenia with pegfilgrastim”. Blood. 110 (12): 4134. PMID 18024801. doi:10.1182/blood-2007-08-106807.
- Lähteenmäki, P. M.; Jahnukainen, K.; Pelliniemi, T. T.; Kainulainen, L.; Salmi, T. T. (јануар 2009). „Severe congenital neutropenia and pegfilgrastim”. Eur J Haematol. 82 (1): 75—6. PMID 18774955. S2CID 32430813. doi:10.1111/j.1600-0609.2008.01145.x..
- Beaupain, B.; Leblanc, T.; Reman, O.; Hermine, O.; Vannier, J. P.; Suarez, F.; Lutz, P.; Bordigoni, P.; Jourdain, A.; Schoenvald, M.; Ouachee, M.; François, S.; Kohser, F.; Jardin, F.; Devouassoux, G.; Bertrand, Y.; Nove-Josserand, R.; Donadieu, J.; French Scn Registry, Service d'Hémato Oncologie Pédiatrique (децембар 2009). „Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry”. Pediatr Blood Cancer. 53 (6): 1068—73. PMID 19618456. S2CID 2631862. doi:10.1002/pbc.22147.
- Ward, A. C.; Dale, D. C. (јануар 2009). „Genetic and molecular diagnosis of severe congenital neutropenia”. Curr Opin Hematol. 16 (1): 9—13. PMC 2720320 . PMID 19057199. doi:10.1097/MOH.0b013e32831952de.
pubmed.ncbi.nlm.nih.gov
- Joazlina, Z. Y.; Wastie, M. L.; Kamarulzaman, A. (1. 9. 2005). „Kostmann's syndrome”. Clinical Imaging. 29 (5): 364—366. ISSN 0899-7071. PMID 16153548. doi:10.1016/j.clinimag.2005.01.031.
omim.org
- „OMIM Entry - * 130130 - ELASTASE, NEUTROPHIL-EXPRESSED; ELANE”. omim.org (на језику: енглески). Приступљено 2022-02-20.
- „OMIM Entry- # 613107 - NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT; SCN2”. omim.org (на језику: енглески). Приступљено 2022-02-20.
- „OMIM Entry - # 612541 - NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4”. omim.org (на језику: енглески). Приступљено 2022-02-20.
- „OMIM Entry -# 615285 - NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5”. omim.org (на језику: енглески). Приступљено 20. 2. 2022.
- „#300299 - NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX - OMIM”. omim.org (на језику: енглески). Приступљено 2023-02-06.
- Elastase, neutrophil-expressed; ELANE. Online Mendelian Inheritance in Man. Johns Hopkins University. [1]
- WAS gene; WAS. Online Mendelian Inheritance in Man. Johns Hopkins University. [2]
semanticscholar.org
api.semanticscholar.org
- Kostmann, Rolf (1956). „Infantile Genetic Agranulocytosis (Agranulocytosis infantilis hereditaria) A New Recessive Lethal Disease in Man”. Acta Paediatrica. 45 (3): 309—310. PMID 13326376. S2CID 71420679. doi:10.1111/j.1651-2227.1956.tb06875.x.
- Klein, Christoph; Grudzien, Magda; Appaswamy, Giridharan; Germeshausen, Manuela; Sandrock, Inga; Schäffer, Alejandro A.; Rathinam, Chozhavendan; Boztug, Kaan; Schwinzer, Beate; Rezaei, Nima; Bohn, Georg; Melin, Malin; Carlsson, Göran; Fadeel, Bengt; Dahl, Niklas; Palmblad, Jan; Henter, Jan-Inge; Zeidler, Cornelia; Grimbacher, Bodo; Welte, Karl (2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nature Genetics. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Klein, C.; Grudzien, M.; Appaswamy, G.; Germeshausen, M.; Sandrock, I.; Schäffer, A. A.; Rathinam, C.; Boztug, K.; Schwinzer, B.; Rezaei, N.; Bohn, G.; Melin, M.; Carlsson, G.; Fadeel, B.; Dahl, N.; Palmblad, J.; Henter, J. I.; Zeidler, C.; Grimbacher, B.; Welte, K. (јануар 2007). „HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)”. Nat Genet. 39 (1): 86—92. PMID 17187068. S2CID 22757727. doi:10.1038/ng1940..
- Germeshausen, M.; Deerberg, S.; Peter, Y.; Reimer, C.; Kratz, C. P.; Ballmaier, M. (2013). „The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia”. Human Mutation. 34 (6): 905—914. PMID 23463630. S2CID 3484630. doi:10.1002/humu.22308.
- Stepensky, Polina; Saada, Ann; Cowan, Marianne; Tabib, Adi; Fischer, Ute; Berkun, Yackov; Saleh, Hani; Simanovsky, Natalia; Kogot-Levin, Aviram; Weintraub, Michael; Ganaiem, Hamam; Shaag, Avraham; Zenvirt, Shamir; Borkhardt, Arndt; Elpeleg, Orly; Bryant, Nia J.; Mevorach, Dror (2013). „The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy”. Blood. 121 (25): 5078—5087. PMID 23599270. S2CID 8868549. doi:10.1182/blood-2012-12-475566..
- Fioredda, F.; Calvillo, M.; Lanciotti, M.; Lanza, T.; Giunti, L.; Castagnola, E.; Lorenzi, I.; Tonelli, R.; Ghezzi, P.; Dufour, C. (март 2010). „Pegfilgrastim in children with severe congenital neutropenia”. Pediatr Blood Cancer. 54 (3): 465—7. PMID 19927291. S2CID 20156801. doi:10.1002/pbc.22350.
- Lähteenmäki, P. M.; Jahnukainen, K.; Pelliniemi, T. T.; Kainulainen, L.; Salmi, T. T. (јануар 2009). „Severe congenital neutropenia and pegfilgrastim”. Eur J Haematol. 82 (1): 75—6. PMID 18774955. S2CID 32430813. doi:10.1111/j.1600-0609.2008.01145.x..
- Beaupain, B.; Leblanc, T.; Reman, O.; Hermine, O.; Vannier, J. P.; Suarez, F.; Lutz, P.; Bordigoni, P.; Jourdain, A.; Schoenvald, M.; Ouachee, M.; François, S.; Kohser, F.; Jardin, F.; Devouassoux, G.; Bertrand, Y.; Nove-Josserand, R.; Donadieu, J.; French Scn Registry, Service d'Hémato Oncologie Pédiatrique (децембар 2009). „Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry”. Pediatr Blood Cancer. 53 (6): 1068—73. PMID 19618456. S2CID 2631862. doi:10.1002/pbc.22147.
worldcat.org
- Joazlina, Z. Y.; Wastie, M. L.; Kamarulzaman, A. (1. 9. 2005). „Kostmann's syndrome”. Clinical Imaging. 29 (5): 364—366. ISSN 0899-7071. PMID 16153548. doi:10.1016/j.clinimag.2005.01.031.