Published in Blood on January 15, 2001
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood (2009) 2.35
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. Blood (2014) 1.52
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy. Nat Rev Endocrinol (2010) 1.32
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
Gene therapy for type I glycogen storage diseases. Curr Gene Ther (2007) 1.07
The chemopreventive properties of chlorogenic acid reveal a potential new role for the microsomal glucose-6-phosphate translocase in brain tumor progression. Cancer Cell Int (2006) 1.05
Infections in patients with inherited defects in phagocytic function. Clin Microbiol Rev (2003) 1.02
Neutropenia in type Ib glycogen storage disease. Curr Opin Hematol (2010) 0.98
Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia. FEBS Lett (2007) 0.90
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? J Inherit Metab Dis (2008) 0.86
Recombinant AAV-directed gene therapy for type I glycogen storage diseases. Expert Opin Biol Ther (2011) 0.85
G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasis. Blood (2011) 0.83
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patients. J Inherit Metab Dis (2011) 0.80
Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol (2014) 0.77
The SLC37 family of phosphate-linked sugar phosphate antiporters. Mol Aspects Med (2013) 0.76
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. Pediatr Gastroenterol Hepatol Nutr (2016) 0.75
Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology (1998) 26.77
Outcomes among 562 recipients of placental-blood transplants from unrelated donors. N Engl J Med (1998) 7.07
Unintended changes in cognition, mood, and behavior arising from cell-based interventions for neurological conditions: ethical challenges. Am J Bioeth (2009) 6.13
Hematopoietic engraftment and survival in adult recipients of umbilical-cord blood from unrelated donors. N Engl J Med (2001) 5.14
Studies on lysosomes. XI. Characterization of a hydrolase-rich fraction from human lymphocytes. J Cell Biol (1968) 4.22
Inhibition of acute lymphoblastic leukaemia by a Jak-2 inhibitor. Nature (1996) 4.04
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science (1993) 3.88
Termination of pregnancy for maternal toxoplasmosis. Lancet (1994) 3.59
Human lymphocyte-sheep erythrocyte rosette formation: some characteristics of the interaction. Clin Immunol Immunopathol (1973) 3.55
Localization of A antigen sites on human erythrocyte ghosts. Nature (1971) 2.99
A full genome search in multiple sclerosis. Nat Genet (1996) 2.96
Purification of human monocytes on microexudate-coated surfaces. J Immunol (1978) 2.86
The key role of peptidoglycan in the opsonization of Staphylococcus aureus. J Clin Invest (1978) 2.83
Studies on human peripheral blood lymphocytes in vitro. II. Morphological and biochemical studies on the transformation of lymphocytes by pokeweed mitogen. J Exp Med (1966) 2.63
Cytokine elevations in critically ill infants with sepsis and necrotizing enterocolitis. J Pediatr (1994) 2.51
The IgG receptor: an immunological marker for the characterization of mononuclear cells. Immunology (1969) 2.46
Involvement of the TCL5 gene on human chromosome 1 in T-cell leukemia and melanoma. Proc Natl Acad Sci U S A (1989) 2.45
Sheep red cell binding to human lymphocytes treated with neuraminidase; enhancement of T cell binding and identification of a subpopulation of B cells. J Exp Med (1973) 2.37
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood (1993) 2.29
Studies on human peripheral blood lymphocytes in vitro. I. Biological and physicochemical properties of the pokeweed mitogen. J Exp Med (1966) 2.27
Close relationship between systemic lupus erythematosus and thrombotic thrombocytopenic purpura in childhood. Arthritis Rheum (1999) 2.23
Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor delta-chain diversity region and results in a previously unreported fusion transcript. Proc Natl Acad Sci U S A (1989) 2.23
Purification of human monocytes on gelatin-coated surfaces. J Immunol Methods (1986) 2.16
Sex-related difference in amygdala activity during emotionally influenced memory storage. Neurobiol Learn Mem (2001) 2.15
Stable mixed hematopoietic chimerism after bone marrow transplantation for sickle cell anemia. Biol Blood Marrow Transplant (2001) 2.10
Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarction. Circulation (2001) 2.09
Human monocytes and macrophages express substance P and neurokinin-1 receptor. J Immunol (1997) 2.08
Ethical aspects of banking placental blood for transplantation. JAMA (1995) 2.07
Human lymphocyte response to phytomitogens in vitro: normal, agammaglobulinemic and paraproteinemic individuals. J Immunol (1969) 2.05
Studies on human peripheral blood lymphocytes in vitro. 3. Fine structural features of lymphocyte transformation by pokeweed mitogen. J Immunol (1967) 2.03
Successful therapy for trilateral retinoblastoma. Am J Ophthalmol (1992) 2.03
[The Gods must be crazy!]. Arch Pediatr (1997) 1.92
Myasthenia gravis. Lancet (1966) 1.82
Cord Blood Transplantation Study (COBLT): cord blood bank standard operating procedures. J Hematother (1998) 1.82
Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med (1987) 1.75
Leukocytosis and natural killer cell function parallel neurobehavioral fatigue induced by 64 hours of sleep deprivation. J Clin Invest (1994) 1.70
Effect of recombinant human granulocyte-macrophage colony-stimulating factor on hematopoietic reconstitution after high-dose chemotherapy and autologous bone marrow transplantation. N Engl J Med (1988) 1.67
Macrophage-tropic strains of human immunodeficiency virus type 1 utilize the CD4 receptor. J Virol (1990) 1.65
Early events in human T cell ontogeny. Phenotypic characterization and immunohistologic localization of T cell precursors in early human fetal tissues. J Exp Med (1988) 1.62
The behavioural neurology assessment. Can J Neurol Sci (2005) 1.62
Prevalence of primitive reflexes and Parkinsonian signs in dementia. Can J Neurol Sci (2010) 1.62
High-dose chemotherapy and autologous bone marrow support as consolidation after standard-dose adjuvant therapy for high-risk primary breast cancer. J Clin Oncol (1993) 1.61
A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections. J Pediatr (1982) 1.60
Disappearance and recovery of human monocyte IgG receptor activity after phagocytosis. J Immunol (1972) 1.59
Cell-based interventions for neurologic conditions: ethical challenges for early human trials. Neurology (2008) 1.57
Marrow transplantation in chronic granulomatous disease: an update, with 6-year follow-up. J Pediatr (1988) 1.57
Establishment of the DU.528 human lymphohemopoietic stem cell line. J Exp Med (1985) 1.56
Long-term human peripheral blood monocyte cultures: establishment, metabolism and morphology of primary human monocyte-macrophage cell cultures. Immunology (1979) 1.55
IgG subclass specificity of human monocyte receptor sites. Nature (1971) 1.55
Granulocytopathies: pleomorphism of neutrophil dysfunction. Am J Med (1969) 1.54
Electron microscopic and functional aspects of human lymphocyte response to mitogens. Transplant Rev (1972) 1.54
Modulation of neutrophil function by lysozyme. Potential negative feedback system of inflammation. J Clin Invest (1979) 1.54
Human lymphocytes express substance P and its receptor. J Neuroimmunol (1998) 1.52
Umbilical cord blood hematopoietic stem and repopulating cells in human clinical transplantation. Blood Cells (1991) 1.50
Clinical, serologic and leukocyte function studies on patients with idiopathic "acquired" agammaglobulinemia and their families. Am J Med (1970) 1.50
Clustering and switching on verbal fluency tests in Alzheimer's and Parkinson's disease. J Int Neuropsychol Soc (1998) 1.49
Severe iron deficiency anemia in young children. J Pediatr (1999) 1.49
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. N Engl J Med (1998) 1.47
Staphylococcal IgE antibodies, hyperimmunoglobulinemia E and Staphylococcus aureus infections. N Engl J Med (1979) 1.47
Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr (1999) 1.47
Conversion of a stem cell leukemia from a T-lymphoid to a myeloid phenotype induced by the adenosine deaminase inhibitor 2'-deoxycoformycin. Proc Natl Acad Sci U S A (1984) 1.46
Human lymphocyte growth in vitro: morphologic, biochemical, and immunologic significance. Int Rev Exp Pathol (1971) 1.45
Combination treatment of bullous pemphigoid with anti-CD20 and anti-CD25 antibodies in a patient with chronic graft-versus-host disease. Bone Marrow Transplant (2002) 1.44
A defect in circulating mononuclear phagocytes in chronicgranulomatous disease of childhood. J Immunol (1968) 1.44
Evidence for susceptibility of intrathymic T-cell precursors and their progeny carrying T-cell antigen receptor phenotypes TCR alpha beta + and TCR gamma delta + to human immunodeficiency virus infection: a mechanism for CD4+ (T4) lymphocyte depletion. Proc Natl Acad Sci U S A (1990) 1.43
Further observations on the doubling time of human chorionic gonadotropin in early asymptomatic pregnancies. Fertil Steril (1990) 1.43
Human herpesvirus 6 limbic encephalitis after stem cell transplantation. Ann Neurol (2001) 1.43
The symphysis pubis. Anatomic and pathologic considerations. Clin Orthop Relat Res (1986) 1.42
Umbilical cord blood stem cells: application for the treatment of patients with hemoglobinopathies. J Pediatr (1997) 1.42
Death rate from pulmonary embolism following joint replacement surgery. J R Coll Surg Edinb (1996) 1.41
Ontogeny of T-cell precursors: a model for the initial stages of human T-cell development. Immunol Today (1989) 1.41
Pathophysiological effects of Vibrio cholerae and enterotoxigenic Escherichia coli and their exotoxins on eucaryotic cells. Microbiol Rev (1978) 1.39
Serendipity in diagnostic imaging: magnetic resonance imaging of the breast. J Natl Cancer Inst (1998) 1.38
Substance P antagonist (CP-96,345) inhibits HIV-1 replication in human mononuclear phagocytes. Proc Natl Acad Sci U S A (2001) 1.36
Infection of cord blood monocyte-derived macrophages with human immunodeficiency virus type 1. J Virol (1992) 1.36
Antibody responses to bacteriophage phi X174 in patients with adenosine deaminase deficiency. Blood (1992) 1.34
Building communities that promote successful aging. West J Med (1997) 1.34
In vitro development of plasma cells from lymphocytes following pokeweed mitogen stimulation: a fine structural study. Exp Cell Res (1969) 1.34
T-Cell recovery in adults and children following umbilical cord blood transplantation. Biol Blood Marrow Transplant (2001) 1.33
Development of the premature infant's host defense system and its relationship to routine immunizations. Clin Perinatol (1984) 1.27
Isolation of highly purified human blood monocytes for in vitro HIV-1 infection studies of monocyte/macrophages. J Immunol Methods (1990) 1.27
Amnesia after anterior communicating artery aneurysm rupture. Neurology (1984) 1.26
Dynamics of the macrophage plasma membrane. Annu Rev Microbiol (1979) 1.26
Susceptibility of Propionibacterium acnes to killing and degradation by human neutrophils and monocytes in vitro. Infect Immun (1985) 1.26
Association of Pseudomonas cepacia with chronic granulomatous disease. J Clin Microbiol (1975) 1.25
Protective role of beta-chemokines associated with HIV-specific Th responses against perinatal HIV transmission. J Immunol (1999) 1.24
Analyses of glucans from cariogenic and mutant Streptococcus mutans. Infect Immun (1978) 1.24
Assessment of regional cerebral perfusion by 99Tcm-HMPAO SPECT in chronic fatigue syndrome. Nucl Med Commun (1992) 1.23
Receptor sites on human monocytes for complement: binding of red cells sensitized by cold autoantibodies. Br J Haematol (1970) 1.23
Phenotypic and genotypic analysis of a human medulloblastoma cell line and transplantable xenograft (D341 Med) demonstrating amplification of c-myc. Am J Pathol (1988) 1.23
Placental transfer of immunoglobulin G subclasses. Clin Diagn Lab Immunol (1994) 1.23
Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. Radiology (2001) 1.23
T-cell subpopulations in chronic lymphocytic leukemia: abnormalities in distribtuion and in in vitro receptor maturation. Blood (1979) 1.22
Increased levels of interleukin-1 in bronchoalveolar washings from children with bacterial pulmonary infections. Am Rev Respir Dis (1990) 1.21
Serum levels of substance P are elevated in patients with sickle cell disease and increase further during vaso-occlusive crisis. Blood (1998) 1.20
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. AJNR Am J Neuroradiol (2009) 1.18