Lista de obras -

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

artículo científico publicado en 2007

A new defect of neutrophil chemotaxis and random motility in a child with recurrent bacterial infections and hyperimmunoglobulinemia E

artículo científico publicado el 13 de marzo de 1978

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

artículo científico publicado en 2006

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

artículo científico publicado en 2010

Autologous stem cell transplantation in refractory paediatric Wegener's granulomatosis

artículo científico publicado el 1 de septiembre de 2011

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

artículo científico publicado en 2005

Biochemical characterization of a new variant of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency with favism: G-6-PD Bielefeld (author's transl)

artículo científico publicado el 15 de abril de 1977

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

artículo científico publicado en 2003

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

artículo científico publicado en 2008

Clinical experience of a tricomponent acellular pertussis vaccine combined with diphtheria and tetanus toxoids for primary vaccination in 22,505 infants

artículo científico publicado en 1996

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

scientific article published on 01 July 1986

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden

scientific article published on 01 January 1990

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

artículo científico publicado en 2013

Cultural bias in the AAP's 2012 Technical Report and Policy Statement on male circumcision

artículo científico publicado en 2013

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

artículo científico publicado en 2014

Differentiation between glycogenosis types Ia and Ib by measurement of extra respiration during phagocytosis by polymorphonuclear leukocytes?

scientific article published on 01 January 1980

Diminished release of lactoferrin from polymorphonuclear leukocytes of human neonates

artículo científico publicado en 1987

Diseases of the lung and respiratory tract in disorders of immunodeficiency in childhood and adolescence

artículo científico publicado en 1996

Early diagnosis of neonatal infection

artículo científico publicado en 1985

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

scientific article published on October 2010

Effect of age on homovanillic and 4-hydroxy-3-methoxymandelic acid levels in plasma.

artículo científico publicado en 1986

Elastase-alpha 1-proteinase inhibitor in early diagnosis of neonatal septicemia

artículo científico publicado en 1986

Elastase-alpha 1-proteinase inhibitor: an early indicator of septicemia and bacterial meningitis in childhood

artículo científico publicado en 1988

Elastase-alpha 1-proteinase inhibitor: an early indicator of septicemia and bacterial meningitis in children

artículo científico publicado en 1987

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

artículo científico publicado en 2006

Fetal Properties in Red Blood Cells of Newborn Infants

artículo científico publicado el 1 de noviembre de 1979

Fetal erythropoiesis and dyserythropoiesis in juvenile chronic myeloid leukaemia

artículo científico publicado el 1 de enero de 1976

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

artículo científico publicado en 2015

Flexibility of erythrocytes in juvenile diabetes mellitus

artículo científico publicado en 1981

Function of breast milk macrophages

artículo científico publicado en 1985

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).

artículo científico publicado en 1985

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Switzerland. Demonstration of a new variant (G-6-PD Aarau) with chronic nonsphaerocytic haemolytic anaemia

artículo científico publicado en 1976

Glucose-6-phosphate dehydrogenase (G6PD) Iserlohn and G6PD Regensburg: two new severe enzyme defects in German families

scientific article published on 01 August 1985

Glycosylated hemoglobins and their relation to the control of juvenile diabetes mellitus

artículo científico publicado el 1 de diciembre de 1978

Haematemesis and dysphagia in a 20-year-old woman with congenital spine malformation and situs inversus partialis ⬇️

artículo científico publicado el 1 de abril de 2003

Haemolytic Anaemia due to Glucose‐6‐Phosphate Dehydrogenase (G6PD) Deficiency: Demonstration of Two New Biochemical Variants, G6PD Hamm and G6PD Tarsus ⬇️

artículo científico publicado el 1 de julio de 1976

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

artículo científico publicado en 2005

Hemoglobin biosynthesis in juvenile erythroleukemia: evidence of imbalanced globin chain synthesis

scientific article published on 01 January 1982

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

artículo científico publicado en 2005

Imbalance of globin chain synthesis in newborn infants with hemolytic disease after exchange transfusion

artículo científico publicado el 1 de enero de 1977

Immunodeficiency with recurrent panlymphocytopenia, impaired maturation of B lymphocytes, impaired interaction of T and B lymphocytes, and impaired integrity of epithelial tissue: a variant of idiopathic CD4+ T lymphocytopenia?

artículo científico publicado en 2002

Immunologic evaluation of children with homozygous beta-thalassemia treated with desferrioxamine

artículo científico publicado en 1990

Immunological principles of polysaccharide-protein conjugate vaccination

artículo científico publicado en 1993

Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.

artículo científico publicado en 1983

Improvement of superoxide production in monocytes from patients with chronic granulomatous disease by recombinant cytokines

scientific article published on 01 April 1993

Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany

artículo científico publicado en 2005

Initial experiences in the treatment of children with metastatic and recurrent neuroblastoma using meta-iodobenzylguanidine

artículo científico publicado en 1986

Is the IFN-gamma-induced enhancement of superoxide production in CGD-phagocytes caused by increased expression of the p47-phox cytosolic protein

artículo científico publicado en 1993

LFA-1 defect: a rare granulocyte function disorders as a cause of therapy-resistant omphalitis in newborn infants

artículo científico publicado en 1991

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

artículo científico publicado en 1999

Long-term follow-up and outcome of 39 patients with chronic granulomatous disease.

artículo científico publicado en 2000

Long-term treatment of patients with itraconazole for the prevention of Aspergillus infections in patients with chronic granulomatous disease (CGD)

artículo científico publicado el 1 de enero de 1994

Membrane Deformability of Erythrocytes with Glucose-6-Phosphate Dehydrogenase Hamburg ⬇️

artículo científico publicado el 1 de enero de 1977

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

artículo científico publicado en 2007

NADPH oxidase is not required for spontaneous and Staphylococcus aureus-induced apoptosis of monocytes

artículo científico publicado en 2004

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

artículo científico publicado en 2012

Neonatal seizures in two sisters with incontinentia pigmenti

scientific article published on 01 April 2004

Neonatal septicemia and meningitis in Göttingen, West Germany

artículo científico publicado en 1985

P-glycoprotein expression increases ATP release in respiratory cystic fibrosis cells

artículo científico publicado en 2005

Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients ⬇️

artículo científico publicado el 1 de agosto de 2001

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome

artículo científico publicado en 2004

Persistence of parvovirus B19-DNA in blood of a child with severe combined immunodeficiency associated with chronic pure red cell aplasia

artículo científico publicado en 1991

Phagocytic activities in neonatal monocytes

artículo científico publicado en 1986

Phagocytosis-associated functions in neonatal monocyte-derived macrophages

artículo científico publicado en 1988

Phagocytosis-associated oxidative metabolism in human milk macrophages.

artículo científico publicado en 1986

Plasma levels of catecholamine metabolites in the newborn period

scientific article published on 01 January 1983

Pneumatosis intestinalis in children with leukaemia; report of three cases

artículo científico publicado en 1981

Polymorphonuclear leukocyte function in term and preterm newborn infants

artículo científico publicado en 1985

Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease

artículo científico publicado en 2011

Rapid and Sustained Remission of Systemic Juvenile Idiopathic Arthritis-Associated Macrophage Activation Syndrome Through Treatment With Anakinra and Corticosteroids ⬇️

artículo científico publicado el 1 de enero de 2011

Reactivation of Fetal Erythropoiesis during the Postnatal Period

artículo científico publicado el 1 de febrero de 1984

Red cell enzyme deficiencies - clinical manifestation and pathophysiology (author's transl)

artículo científico publicado el 1 de agosto de 1981

Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus

scientific article published on 01 March 1981

Reduced secretion of interleukin-1 and tumor necrosis factor-alpha by neonatal monocytes

artículo científico publicado en 1993

Sequential determination of CRP, alpha 1-antitrypsin and haptoglobin in neonatal septicaemia

artículo científico publicado en 1983

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

artículo científico publicado en 2004

The gamma-chain heterogeneity of haemoglobin F in German infants

artículo científico publicado en 1989

The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease.

artículo científico publicado en 2007

The value of determination of homovanillic and vanillylmandelic acids in plasma for the diagnosis and follow-up of neuroblastoma in children

artículo científico publicado en 1987

Transient oligoarthritis of the lower extremity following influenza B virus infection: Case report

artículo científico publicado en 2010

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity

artículo científico publicado en 1991

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

artículo científico publicado en 2003

Wegener's granulomatosis in pediatric patients

artículo científico publicado en 2007

[Chronic benign neutropenia]

artículo científico publicado en 1982

[Chronic neutropenia (author's transl)]

artículo científico publicado en 1982

[Function of neonatal neutrophilic granulocytes]

[Hyper-IgE syndrome]

artículo científico publicado en 1987

[Infection and neonatal meningitis: epidemiology, pathogen spectrum, therapy]

artículo científico publicado en 1986

[Kawasaki syndrome. Association with exposure to carpet shampoo and successful therapy with immunoglobulins in the second week of the illness]

artículo científico publicado en 1992

[Lysinuric protein intolerance]

artículo científico publicado en 1983

[Pathophysiology, diagnosis and therapy of disorders of granulocyte function]

scientific article published on 01 July 1989

[Professional politicians speak positively of a federal ombudsman for children]

artículo científico publicado en 2015

[The monocyte-macrophage system in the human]

scientific article published on 01 July 1989

Lista de obras de

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

A new defect of neutrophil chemotaxis and random motility in a child with recurrent bacterial infections and hyperimmunoglobulinemia E

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

Autologous stem cell transplantation in refractory paediatric Wegener's granulomatosis

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

Biochemical characterization of a new variant of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency with favism: G-6-PD Bielefeld (author's transl)

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

Clinical experience of a tricomponent acellular pertussis vaccine combined with diphtheria and tetanus toxoids for primary vaccination in 22,505 infants

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

Cultural bias in the AAP's 2012 Technical Report and Policy Statement on male circumcision

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Differentiation between glycogenosis types Ia and Ib by measurement of extra respiration during phagocytosis by polymorphonuclear leukocytes?

Diminished release of lactoferrin from polymorphonuclear leukocytes of human neonates

Diseases of the lung and respiratory tract in disorders of immunodeficiency in childhood and adolescence

Early diagnosis of neonatal infection

Early onset systemic lupus erythematosus: differential diagnoses, clinical presentation, and treatment options.

Effect of age on homovanillic and 4-hydroxy-3-methoxymandelic acid levels in plasma.

Elastase-alpha 1-proteinase inhibitor in early diagnosis of neonatal septicemia

Elastase-alpha 1-proteinase inhibitor: an early indicator of septicemia and bacterial meningitis in childhood

Elastase-alpha 1-proteinase inhibitor: an early indicator of septicemia and bacterial meningitis in children

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

Fetal Properties in Red Blood Cells of Newborn Infants

Fetal erythropoiesis and dyserythropoiesis in juvenile chronic myeloid leukaemia

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

Flexibility of erythrocytes in juvenile diabetes mellitus

Function of breast milk macrophages

Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Switzerland. Demonstration of a new variant (G-6-PD Aarau) with chronic nonsphaerocytic haemolytic anaemia

Glucose-6-phosphate dehydrogenase (G6PD) Iserlohn and G6PD Regensburg: two new severe enzyme defects in German families

Glycosylated hemoglobins and their relation to the control of juvenile diabetes mellitus

Haematemesis and dysphagia in a 20-year-old woman with congenital spine malformation and situs inversus partialis ⬇️

Haemolytic Anaemia due to Glucose‐6‐Phosphate Dehydrogenase (G6PD) Deficiency: Demonstration of Two New Biochemical Variants, G6PD Hamm and G6PD Tarsus ⬇️

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

Hemoglobin biosynthesis in juvenile erythroleukemia: evidence of imbalanced globin chain synthesis

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

Imbalance of globin chain synthesis in newborn infants with hemolytic disease after exchange transfusion

Immunodeficiency with recurrent panlymphocytopenia, impaired maturation of B lymphocytes, impaired interaction of T and B lymphocytes, and impaired integrity of epithelial tissue: a variant of idiopathic CD4+ T lymphocytopenia?

Immunologic evaluation of children with homozygous beta-thalassemia treated with desferrioxamine

Immunological principles of polysaccharide-protein conjugate vaccination

Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib.

Improvement of superoxide production in monocytes from patients with chronic granulomatous disease by recombinant cytokines

Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany

Initial experiences in the treatment of children with metastatic and recurrent neuroblastoma using meta-iodobenzylguanidine

Is the IFN-gamma-induced enhancement of superoxide production in CGD-phagocytes caused by increased expression of the p47-phox cytosolic protein

LFA-1 defect: a rare granulocyte function disorders as a cause of therapy-resistant omphalitis in newborn infants

Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options

Long-term follow-up and outcome of 39 patients with chronic granulomatous disease.

Long-term treatment of patients with itraconazole for the prevention of Aspergillus infections in patients with chronic granulomatous disease (CGD)

Membrane Deformability of Erythrocytes with Glucose-6-Phosphate Dehydrogenase Hamburg ⬇️

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus

NADPH oxidase is not required for spontaneous and Staphylococcus aureus-induced apoptosis of monocytes

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Neonatal seizures in two sisters with incontinentia pigmenti

Neonatal septicemia and meningitis in Göttingen, West Germany

P-glycoprotein expression increases ATP release in respiratory cystic fibrosis cells

Periodic fever (TRAPS) caused by mutations in the TNFalpha receptor 1 (TNFRSF1A) gene of three German patients ⬇️

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome

Persistence of parvovirus B19-DNA in blood of a child with severe combined immunodeficiency associated with chronic pure red cell aplasia

Phagocytic activities in neonatal monocytes

Phagocytosis-associated functions in neonatal monocyte-derived macrophages

Phagocytosis-associated oxidative metabolism in human milk macrophages.

Plasma levels of catecholamine metabolites in the newborn period

Pneumatosis intestinalis in children with leukaemia; report of three cases

Polymorphonuclear leukocyte function in term and preterm newborn infants

Presentations and treatment of childhood scleroderma: localized scleroderma, eosinophilic fasciitis, systemic sclerosis, and graft-versus-host disease

Rapid and Sustained Remission of Systemic Juvenile Idiopathic Arthritis-Associated Macrophage Activation Syndrome Through Treatment With Anakinra and Corticosteroids ⬇️

Reactivation of Fetal Erythropoiesis during the Postnatal Period

Red cell enzyme deficiencies - clinical manifestation and pathophysiology (author's transl)

Red cell phosphoglucomutase (PGM)-deficiency: hereditary defect of the PGM1-locus

Reduced secretion of interleukin-1 and tumor necrosis factor-alpha by neonatal monocytes

Sequential determination of CRP, alpha 1-antitrypsin and haptoglobin in neonatal septicaemia

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

The gamma-chain heterogeneity of haemoglobin F in German infants

The stem cell marker prominin-1/CD133 on membrane particles in human cerebrospinal fluid offers novel approaches for studying central nervous system disease.

The value of determination of homovanillic and vanillylmandelic acids in plasma for the diagnosis and follow-up of neuroblastoma in children