Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry-Reference-Cited by-同舟云学术

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

Published:2014-12 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Desplantes Claire,Fremond Marie Louise,Beaupain Blandine,Harousseau Jean Luc,Buzyn Agnès,Pellier Isabelle,Roques Gaelle,Morville Pierre,Paillard Catherine,Bruneau Julie,Pinson Lucile,Jeziorski Eric,Vannier Jean Pierre,Picard Capucine,Bellanger Florence,Romero Norma,de Pontual Loïc,Lapillonne Hélène,Lutz Patrick,Chantelot Christine Bellanné,Donadieu Jean

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0183-8.pdf

Reference33 articles.

1. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Bellanne CC, Chantelot C: Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet J Rare Dis. 2011, 6: 26-10.1186/1750-1172-6-26.

2. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C: A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009, 360: 32-43. 10.1056/NEJMoa0805051.

3. Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS: A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol. 2013, 33: 1403-1406. 10.1007/s10875-013-9945-7.

4. Banka S, Newman WG: A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis. 2013, 8: 84-10.1186/1750-1172-8-84.

5. Estevez OA, Ortega C, Tejero A, Fernandez S, Aguado R, Arostegui JI, Gonzalez-Roca E, Pena J, Santamaria M: A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. Pediatr Blood Cancer. 2013, 60: E29-E31. 10.1002/pbc.24499.

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