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A journey of hope: lessons learned from studies on rare diseases and orphan drugs

Journal of internal medicine, 2006-07, Vol.260 (1), p.1-10

2006

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Risk factors for diabetes insipidus in langerhans cell histiocytosis

Pediatric Blood & Cancer, 2006-02, Vol.46 (2), p.228-233

2006

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Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Journal of internal medicine, 2008-10, Vol.264 (4), p.388-400

2008

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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Science (American Association for the Advancement of Science), 1999-12, Vol.286 (5446), p.1957-1959

1999

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Hematopoietic stem cell transplantation in children with cancer and the risk of long-term psychological morbidity in the bereaved parents

Bone marrow transplantation (Basingstoke), 2011-08, Vol.46 (8), p.1063-1070

2011

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Hematopoietic stem cell transplantation in severe congenital neutropenia

Pediatric blood & cancer, 2011-03, Vol.56 (3), p.444-451

2011

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Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

Journal of medical genetics, 2006-04, Vol.43 (4), p.e14-e14

2006

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Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

Journal of medical genetics, 2008-03, Vol.45 (3), p.134-141

2008

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P543: TARGETING SAMHD1 WITH HYDROXYUREA IN FIRST‐LINE CYTARABINE‐BASED THERAPY OF NEWLY DIAGNOSED ACUTE MYELOID LEUKAEMIA: RESULTS FROM THE HEAT‐AML TRIAL

HemaSphere, 2022-06, Vol.6, p.442-443

2022

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Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations

Journal of medical genetics, 2008-01, Vol.45 (1), p.15-21

2008

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Cleavage of Bcl-2 is an early event in chemotherapy-induced apoptosis of human myeloid leukemia cells

Leukemia, 1999-05, Vol.13 (5), p.719-728

1999

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Parvovirus B19 Infection in Children with Acute Lymphoblastic Leukemia is Associated with Cytopenia Resulting in Prolonged Interruptions of Chemotherapy

Clinical infectious diseases, 2008-02, Vol.46 (4), p.528-536

2008

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Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis

The Journal of pediatrics, 1997-03, Vol.130 (3), p.358-365

1997

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Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis

Hematology/oncology clinics of North America, 1998-04, Vol.12 (2), p.435-444

1998

Volltextzugriff (PDF)

Screening for neurodegeneration in Langerhans cell histiocytosis with neurofilament light in plasma

British journal of haematology, 2022-08, Vol.198 (4), p.721-728

2022

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Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

Leukemia, 2005-01, Vol.19 (1), p.159-161

2005

Volltextzugriff (PDF)

SP0103 Treatment of hemophagocytic lymphohistiocytosis

Annals of the rheumatic diseases, 2013-06, Vol.71 (Suppl 3), p.26-26

Henter, J.-I.

2013

Volltextzugriff (PDF)

Hypercytokinemia in Familial Hemophagocytic Lymphohistiocytosis

Blood, 1991-12, Vol.78 (11), p.2918-2922

1991

Volltextzugriff (PDF)

Hemophagocytic lymphohistiocytosis. Report of 122 children from the international registry

Leukemia, 1996-02, Vol.10 (2), p.197-203

1996

Volltextzugriff (PDF)

Autopsy findings in 27 children with haemophagocytic lymphohistiocytosis

Histopathology, 1998-04, Vol.32 (4), p.310-316

1998

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Successful Treatment of Langerhans'-Cell Histiocytosis with Etanercept

The New England journal of medicine, 2001-11, Vol.345 (21), p.1577-1578

2001

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Incidence in Sweden and Clinical Features of Familial Hemophagocytic Lymphohistiocytosis

Acta Paediatrica, 1991-04, Vol.80 (4), p.428-435

1991

Volltextzugriff (PDF)

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

Blood, 2002-10, Vol.100 (7), p.2367-2373

2002

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Survivin expression in the bone marrow of patients with severe congenital neutropenia

Leukemia, 2009-03, Vol.23 (3), p.622-625

2009

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A journey of hope: lessons learned from studies on rare diseases and orphan drugs

Risk factors for diabetes insipidus in langerhans cell histiocytosis

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

Hematopoietic stem cell transplantation in children with cancer and the risk of long-term psychological morbidity in the bereaved parents

Hematopoietic stem cell transplantation in severe congenital neutropenia

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

P543: TARGETING SAMHD1 WITH HYDROXYUREA IN FIRST‐LINE CYTARABINE‐BASED THERAPY OF NEWLY DIAGNOSED ACUTE MYELOID LEUKAEMIA: RESULTS FROM THE HEAT‐AML TRIAL

Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations

Cleavage of Bcl-2 is an early event in chemotherapy-induced apoptosis of human myeloid leukemia cells

Parvovirus B19 Infection in Children with Acute Lymphoblastic Leukemia is Associated with Cytopenia Resulting in Prolonged Interruptions of Chemotherapy

Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis

Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis

Screening for neurodegeneration in Langerhans cell histiocytosis with neurofilament light in plasma

Raji revisited: cytogenetics of the original Burkitt's lymphoma cell line

SP0103 Treatment of hemophagocytic lymphohistiocytosis

Hypercytokinemia in Familial Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis. Report of 122 children from the international registry

Autopsy findings in 27 children with haemophagocytic lymphohistiocytosis

Successful Treatment of Langerhans'-Cell Histiocytosis with Etanercept

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

Incidence in Sweden and Clinical Features of Familial Hemophagocytic Lymphohistiocytosis

Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

Survivin expression in the bone marrow of patients with severe congenital neutropenia

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