{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:46:09Z","timestamp":1791103569451,"version":"4.1.0"},"reference-count":25,"publisher":"American Society of Hematology","issue":"12","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2003,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated\u2014for unknown reasons\u2014 with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in whom nicotin-amide adenine dinucleotide phosphate\u2013oxidase activity and chemotaxis were defective, we found that the majority of circulating granulocytes bound Annexin-V. The neutrophils showed signs of apoptosis with increased caspase activity, condensed nuclei, and perinuclear clustering of mitochondria to which the proapoptotic Bcl-2 member Bax had translocated already. Granulocyte colony-stimulating factor (G-CSF) addition to in vitro cultures did not rescue the GSD1b neutrophils from apoptosis as occurs with G-CSF\u2013treated control neutrophils. Moreover, the 2 GSD1b patients on G-CSF treatment did not show significantly lower levels of apoptotic neutrophils in the bloodstream. Current understanding of neutrophil apoptosis and the accompanying functional demise suggests that GSD1b granulocytes are dysfunctional because they are apoptotic.<\/jats:p>","DOI":"10.1182\/blood-2002-10-3128","type":"journal-article","created":{"date-parts":[[2003,2,12]],"date-time":"2003-02-12T20:36:08Z","timestamp":1045082168000},"page":"5021-5024","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":101,"title":["Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)"],"prefix":"10.1182","volume":"101","author":[{"given":"Taco W.","family":"Kuijpers","sequence":"first","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolai A.","family":"Maianski","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton T. J.","family":"Tool","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Peter A.","family":"Smit","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Peter","family":"Rake","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Roos","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[{"name":"From Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Sanquin Research at Central Laboratory for Blood Transfusion (CLB), and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Beatrix Children's Hospital, University Hospital Groningen, Groningen, the Netherlands; and Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021218415632300_REF1","doi-asserted-by":"crossref","unstructured":"van Schaftingen E, Gerin I. 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