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Therapy-resistant haemarthros in a patient with factor VIII inhibitor: successful treatment with recombinant factor VIIa

J. Oldenburg, W. Kreuz, S. Eber, 1999, European Journal of Pediatrics.

Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature

F. Hanefeld, G. Korenke, D. Hunneman, 2004, European Journal of Pediatrics.

A dispermic chimerism in a 2-year-old Caucasian boy

W. Mayr, A. Humpe, S. Eber, 1999, Annals of Hematology.

A phase II trial of liposomal busulphan as an intravenous myeloablative agent prior to stem cell transplantation: 500 mg/m2 as a optimal total dose for conditioning

P. Ljungman, O. Ringdén, R. Seger, 2002, Bone Marrow Transplantation.

Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia.

W. Krietsch, S. Eber, G. Kuntz, 1980, American journal of human genetics.

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

P. Bugert, E. Klopocki, R. Knöfler, 2018, TH Open.

Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

Stefan Eber, Samuel E Lux, S. Lux, 2004, Seminars in hematology.

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H. Lutz, S. Perrotta, A. Zanella, 2002, Blood.

The Effectiveness of Varicella Vaccination in Children in Germany: A Case-control Study

J. Liese, A. Streng, M. Greenberg, 2013, The Pediatric infectious disease journal.

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

P. Newburger, D. Morton, E. Neufeld, 2018, Blood.

[Hemolytic-uremic syndrome in pneumococcal meningitis and infection. Importance of T-transformation].

S. Eber, K. Rumpf, R. Lynen, 1993, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Prevalence of increased osmotic fragility of erythrocytes in German blood donors: Screening using a modified glycerol lysis test

A. Pekrun, S. Eber, W. Schröter, 1992, Annals of Hematology.

D. Morton, S. Sheth, V. Breakey, 2021, Blood advances.

Pyruvate kinase deficiency in children

D. Morton, E. Neufeld, S. Sheth, 2021, Pediatric blood & cancer.

Characterization of the severe phenotype of pyruvate kinase deficiency

D. Morton, S. Sheth, M. Wlodarski, 2019, American journal of hematology.

Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

P. Newburger, D. Morton, E. Neufeld, 2018, Haematologica.

Molecular Characterization of 140 Patients in the Pyruvate Kinase Deficiency (PKD) Natural History Study (NHS): Report of 20 New Variants

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Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis

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Glucuronyl transferase deficiency and mild hereditary spherocytosis: effect of splenectomy

S. Eber, D. Ullrich, C. Speer, 1988, European Journal of Pediatrics.

Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis.

W Schröter, S. Eber, S W Eber, 1990, The Journal of pediatrics.

Effectiveness of partial splenectomy in hereditary spherocytosis

B. Bader-Meunier, F. Gauthier, G. Tchernia, 1997, Current opinion in hematology.

Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency

S. Eber, A. Pekrum, M. Hendrys, 2004, Acta Neuropathologica.

The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families.

E. Beutler, R. Rosa, M. Cohen-Solal, 1996, Blood cells, molecules & diseases.

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants

M. Gahr, G. Prindull, S. Eber, 1986, Blut.

Structural basis for the high activation energy of spectrin self‐association

S. Eber, S. Morris, W.B. Gratzer, 1989, FEBS letters.

Saethre‐Chotzen syndrome (ACS III) in four generations

B. Zoll, S. Eber, S. Niemann‐Seyde, 1991, Clinical genetics.

[Diabetes mellitus type I, celiac disease and Imerslund-Gräsbeck syndrome: only an incidental combination of rare diseases?].

O. Witt, S. Eber, A. Schröder, 2000, Klinische Padiatrie.

Congenital Deficiency of Vitamin K Dependent Coagulation Factors in Two Families Presents as a Genetic Defect of the Vitamin K-Epoxide-Reductase-Complex

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[Prevention of infections and thromboses after splenectomy or because of functional loss of the spleen].

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Isolation of phosphoglycerate kinases by affinity chromatography.

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Near‐total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity

S. Eber, U. Mittler, R. Hilgers, 2006, British journal of haematology.

Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases

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Severe neurological impairment in hereditary methaemoglobinaemia type 2

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Absence of phosphorylation-induced gelation of erythrocyte membrane skeletons: A diagnostic tool for hereditary spherocytosis

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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

S. Antonarakis, M. Morris, C. Biron, 2001, Human Genetics.

Simultaneous (AC)n microsatellite polymorphism analysis and single‐stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin‐1 mutations in dominant hereditary spherocytosis

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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

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

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Autosomal dominant overhydrated stomatocytosis associated with the heterozygous RhAG mutation F65S: a case of missed heterozygosity due to allelic dropout

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Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5′-maleimide binding assay

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Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen.

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[Antiinfectious prophylaxis in asplenia].

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[Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].

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Regulation of band 3 rotational mobility by ankyrin in intact human red cells.

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Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation

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Combined ankyrin and spectrin deficiency in hereditary spherocytosis

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Comorbidities and complications in adults with pyruvate kinase deficiency

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The isolation and characterization of the multiple forms of human skeletal muscle triosephosphate isomerase.

W. Krietsch, S. Eber, 1980, Biochimica et biophysica acta.

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H. Lutz, S. Perrotta, A. Zanella, 2013 .

Glucose-6-phosphate dehydrogenase (G6PD) iserlohn and G6PD regensburg: Two new severe enzyme defects in german families

M. Gahr, S. Eber, W. Schröter, 1985, Blut.

Multiple forms of human phosphoglycerate kinase.

W. Krietsch, S. Eber, I. Freier, 1979, Archives of biochemistry and biophysics.

Anämien und Hämoglobinkrankheiten bei Patienten mit Migrationshintergrund

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Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study

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I3 – Hereditäre Sphärozytose

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