Literature DB >> 35084551

Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.

Taxiarchis Konstantinos Nikolouzakis1,2, Konstantinos Spyridakis1, Maria Tzardi3, Grigorios Tsaknakis4, Maria Ximeri5, Maksim Klimiankou6, Emmanuel Chrysos1, Julia Skokowa6, Helen A Papadaki7,8.   

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Year:  2022        PMID： 35084551     DOI： 10.1007/s00277-022-04772-4

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  9 in total

1.  Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.

Authors:  David C Dale; Audrey Anna Bolyard; Laurie A Steele; Cornelia Zeidler; Karl Welte
Journal:  Curr Opin Hematol       Date:  2020-01       Impact factor: 3.284

2.  Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

Authors:  Kaan Boztug; Philip S Rosenberg; Marie Dorda; Siddharth Banka; Thomas Moulton; Julie Curtin; Nima Rezaei; John Corns; Jeffrey W Innis; Zekai Avci; Hung Chi Tran; Isabelle Pellier; Paolo Pierani; Rachel Fruge; Nima Parvaneh; Setareh Mamishi; Rajen Mody; Phil Darbyshire; Jayashree Motwani; Jennie Murray; George R Buchanan; William G Newman; Blanche P Alter; Laurence A Boxer; Jean Donadieu; Karl Welte; Christoph Klein
Journal:  J Pediatr       Date:  2011-11-01       Impact factor: 4.406

3.  Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia.

Authors:  Bradley N Smith; Catherine Evans; Akbar Ali; Phil J Ancliff; Bu'hussain Hayee; Anthony W Segal; Georgina Hall; Zuhre Kaya; Abdul Rauf Shakoori; David C Linch; Rosemary E Gale
Journal:  Br J Haematol       Date:  2012-04-02       Impact factor: 6.998

4.  Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.

Authors:  Yuk Yin Cheung; So Youn Kim; Wai Han Yiu; Chi-Jiunn Pan; Hyun-Sik Jun; Robert A Ruef; Eric J Lee; Heiner Westphal; Brian C Mansfield; Janice Y Chou
Journal:  J Clin Invest       Date:  2007-02-22       Impact factor: 14.808

5.  Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency.

Authors:  Anu Goenka; John A Doherty; Tariq Al-Farsi; Christopher Jagger; Siddharth Banka; Edmund Cheesman; Andrew Fagbemi; Stephen M Hughes; Robert F Wynn; Tracy Hussell; Peter D Arkwright
Journal:  J Leukoc Biol       Date:  2020-09-15       Impact factor: 4.962

6.  Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Authors:  Jun Xia; Audrey A Bolyard; Elin Rodger; Steve Stein; Andrew A Aprikyan; David C Dale; Daniel C Link
Journal:  Br J Haematol       Date:  2009-09-22       Impact factor: 6.998

7.  A syndrome with congenital neutropenia and mutations in G6PC3.

Authors:  Kaan Boztug; Giridharan Appaswamy; Angel Ashikov; Alejandro A Schäffer; Ulrich Salzer; Jana Diestelhorst; Manuela Germeshausen; Gudrun Brandes; Jacqueline Lee-Gossler; Fatih Noyan; Anna-Katherina Gatzke; Milen Minkov; Johann Greil; Christian Kratz; Theoni Petropoulou; Isabelle Pellier; Christine Bellanné-Chantelot; Nima Rezaei; Kirsten Mönkemöller; Noha Irani-Hakimeh; Hans Bakker; Rita Gerardy-Schahn; Cornelia Zeidler; Bodo Grimbacher; Karl Welte; Christoph Klein
Journal:  N Engl J Med       Date:  2009-01-01       Impact factor: 91.245

Review 8.  A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.

Authors:  Siddharth Banka; William G Newman
Journal:  Orphanet J Rare Dis       Date:  2013-06-13       Impact factor: 4.123

9.  Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.

Authors:  Claire Desplantes; Marie Louise Fremond; Blandine Beaupain; Jean Luc Harousseau; Agnès Buzyn; Isabelle Pellier; Gaelle Roques; Pierre Morville; Catherine Paillard; Julie Bruneau; Lucile Pinson; Eric Jeziorski; Jean Pierre Vannier; Capucine Picard; Florence Bellanger; Norma Romero; Loïc de Pontual; Hélène Lapillonne; Patrick Lutz; Christine Bellanné Chantelot; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2014-12-10       Impact factor: 4.123
  9 in total

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