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Alfried Kohlschuetter

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Simone Zittel; C Ganos; Christian Gerloff; D Gläser; Alexander Münchau; M Nickel; G Uyanik; N I Wolf; Alfried Kohlschuetter
"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.
Anna Schossig; Bernhard Steiner; Gernot Stocker; Otmar Tönz; Zlatko Trajanoski; Christof von Kalle; Katharina Wimmer; Nicole I Wolf; Albert Amberger; Claus R Bartram; Barbara Burwinkel; Andreas Dander; Annette Deichmann; Christine Fauth; Christine Fischer; Maria Fischer; Caspar Grond-Ginsbach; Edda Haberlandt; Martin J Koch; Alfried Kohlschuetter; Dieter Kotzot; Stephan Pabinger; Johannes Zschocke
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Alfried Kohlschuetter
Evaluating experimental treatment of leukodystrophies.

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2012: Simone Zittel; C Ganos; Christian Gerloff; D Gläser; Alexander Münchau; M Nickel; G Uyanik; N I Wolf; Alfried Kohlschuetter
"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.
Journal of neurology 2012;259(11):2498-500.
2012: Anna Schossig; Bernhard Steiner; Gernot Stocker; Otmar Tönz; Zlatko Trajanoski; Christof von Kalle; Katharina Wimmer; Nicole I Wolf; Albert Amberger; Claus R Bartram; Barbara Burwinkel; Andreas Dander; Annette Deichmann; Christine Fauth; Christine Fischer; Maria Fischer; Caspar Grond-Ginsbach; Edda Haberlandt; Martin J Koch; Alfried Kohlschuetter; Dieter Kotzot; Stephan Pabinger; Johannes Zschocke
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
American journal of human genetics 2012;90(4):701-7.
2011: Alfried Kohlschuetter
Evaluating experimental treatment of leukodystrophies.
Developmental medicine and child neurology 2011;53(9):781.
2011: Anne-Hélène Lebrun; Georgia Makrypidi; Sara E Mole; Parisa Moll-Khosrawi; Benjamin Otto; Sandra Pohl; Thomas Braulke; Susan Cotman; Dirk Kilian; Alfried Kohlschuetter; Stephan Storch; Thomas Streichert; Kurt Ullrich; Angela Schulz
Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.
Molecular medicine (Cambridge, Mass.) 2011;17(11-12):1253-61.
2010: Alfried Kohlschuetter; Annette Bley; Knut Brockmann; Jutta Gärtner; Ingeborg Krägeloh-Mann; Arndt Rolfs; Ludger Schöls
Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.
Brain & development 2010;32(2):82-9.
2009: Alfried Kohlschuetter; Angela Schulz
Towards understanding the neuronal ceroid lipofuscinoses.
Brain & development 2009;31(7):499-502.
2009: Marco Henneke; Simone Diekmann; Andreas Ohlenbusch; Jens Kaiser; Volkher Engelbrecht; Alfried Kohlschuetter; Ralph Krätzner; Marcos Madruga-Garrido; Michèle Mayer; Lennart Opitz; Diana Rodriguez; Franz Rüschendorf; Johannes Schumacher; Holger Thiele; Sven Thoms; Robert Steinfeld; Peter Nürnberg; Jutta Gärtner
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Nature genetics 2009;41(7):773-5.
2009: Anne-Hélène Lebrun; Stephan Storch; Franz Rüschendorf; Mia-Lisa Schmiedt; Aija Kyttälä; Sara E Mole; Claudia Kitzmüller; Kathrin Saar; Leena D Mewasingh; Volker Boda; Alfried Kohlschuetter; Kurt Ullrich; Thomas Braulke; Angela Schulz
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Human mutation 2009;30(5):E651-61.
2007: J Gärtner; Alfried Kohlschuetter; Volkmar Gieselmann
[Leukodystrophies: diseases of white matter of the nervous system].
Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2007;50(12):1531-40.
2007: Sandra Pohl; Hannah M Mitchison; Alfried Kohlschuetter; Otto van Diggelen; Thomas Braulke; Stephan Storch
Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
Journal of neurochemistry 2007;103(6):2177-88.
2007: Maria Görg; Wanja Wilck; Barbara Granitzny; Anne Suerken; Zoltan Lukacs; Xiaoqi Ding; Michael Schulte-Markwort; Alfried Kohlschuetter
Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
Journal of child neurology 2007;22(9):1139-42.
2006: Ruth E Williams; Laura E Aberg; Taina Autti; Hans H Goebel; Alfried Kohlschuetter; Tuula Lönnqvist
Diagnosis of the neuronal ceroid lipofuscinoses: an update.
Biochimica et biophysica acta 2006;1762(10):865-72.
2006: B A Neubauer; I Stefanova; Christoph Hübner; Eva Neumaier-Probst; J Bohl; H C Oppermann; H Stö; A Hahn; Ulrich Stephani; Alfried Kohlschuetter; A Gal
A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neurology 2006;67(4):587-91.
2006: K Rüther; A Gal; Alfried Kohlschuetter
[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis].
Klinische Monatsblätter für Augenheilkunde 2006;223(6):542-4.
2005: K A Wenner; Joao Paulo Vieira Pinheiro; Gabriele Escherich; Rüdiger Wessalowski; Norbert Jorch; Johannes Ernst Wolff; M Stehn; Alfried Kohlschuetter; Joachim Boos; Gritta E Janka-Schaub
Asparagine concentration in plasma after 2,500 IU/m(2) PEG-asparaginase i.v. in children with acute lymphoblastic leukemia.
Klinische Pädiatrie 2005;217(6):321-6.
2005: Eija Siintola; Meral Topcu; Alfried Kohlschuetter; Outi Kopra; Tarja Joensuu; Anna-Kaisa Anttonen; Anna-Elina Lehesjoki
Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Clinical genetics 2005;68(2):167-73.
2005: René Santer; Johannes Rischewski; Michaela von Weihe; Marko Niederhaus; Sonja Schneppenheim; Kurt Baerlocher; Alfried Kohlschuetter; Ania C Muntau; Hans-Georg Posselt; Beat Steinmann; Reinhard Schneppenheim
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Human mutation 2005;25(6):594.
2005: Marco Henneke; Natalie Preuss; V Engelbrecht; Fuat Aksu; E Bertini; Genila Bibat; Knut Brockmann; Christoph Hübner; M Mayer; Vlatka Mejaski-Bosnjak; Sakkubai Naidu; Eva Neumaier-Probst; D Rodriguez; W Weisz; Alfried Kohlschuetter; Jutta Gärtner
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Neurology 2005;64(8):1411-6.
2005: Andreas Ohlenbusch; Marco Henneke; Knut Brockmann; Maria Goerg; Folker Hanefeld; Alfried Kohlschuetter; Jutta Gärtner
Identification of ten novel mutations in patients with eIF2B-related disorders.
Human mutation 2005;25(4):411.
2005: Christian A Hübner; Ulrike Orth; Arne Senning; Cordula Steglich; Alfried Kohlschuetter; Rudolf Korinthenberg; Andreas Gal
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Human mutation 2005;25(3):321-2.
2005: Frank Baehner; C Schmiedeskamp; Frank Krummenauer; E Miebach; Manal Bajbouj; Catharina Whybra; Alfried Kohlschuetter; Christoph Kampmann; Michael Beck
Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Journal of inherited metabolic disease 2005;28(6):1011-7.
2005: Hendrik van den Bussche; Sven Anders; Maren Ehrhardt; Thomas Göttsche; Bernd Hüneke; Alfried Kohlschuetter; Ralph Kothe; Olaf Kuhnigk; Karsten Neuber; Michel Rijntjes; Christina Quellmann; Sigrid Harendza
[Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law].
Zeitschrift für ärztliche Fortbildung und Qualitätssicherung 2005;99(7):419-23.
2005: Zoltan Lukacs; Angelika Keil; Alfried Kohlschuetter; M Beck; E Mengel
The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Journal of inherited metabolic disease 2005;28(5):803-5.
2005: Zoltan Lukacs; Alexandra Dietrich; Rainer Ganschow; Alfried Kohlschuetter; Rudolf Kruithof
Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2005;43(2):141-5.
2004: Xiao-Qi Ding; Thomas Kucinski; Oliver Wittkugel; Einar Goebell; Ulrich Grzyska; Maria Görg; Alfried Kohlschuetter; Hermann Zeumer
Normal brain maturation characterized with age-related T2 relaxation times: an attempt to develop a quantitative imaging measure for clinical use.
Investigative radiology 2004;39(12):740-6.
2004: Robert Steinfeld; Hans-Bertram Steinke; Dirk Isbrandt; Alfried Kohlschuetter; Jutta Gärtner
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Human molecular genetics 2004;13(20):2483-91.
2004: Angela Schulz; Sumeer Dhar; Svetlana N Rylova; Ghassan Dbaibo; Joseph Alroy; Christian Hagel; Isabelo Artacho; Alfried Kohlschuetter; Simon Lin; Rose-Mary N Boustany
Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Annals of neurology 2004;56(3):342-50.
2004: Claudia Heine; Bettina Koch; Stephan Storch; Alfried Kohlschuetter; David N Palmer; Thomas Braulke
Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.
The Journal of biological chemistry 2004;279(21):22347-52.
2004: Kostas Tsiakas; Robert Steinfeld; Stephan Storch; Junji Ezaki; Zoltan Lukacs; Eiki Kominami; Alfried Kohlschuetter; Kurt Ullrich; Thomas Braulke
Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Glycobiology 2004;14(4):1C-5C.
2004: Jörg Klepper; Sonja Diefenbach; Alfried Kohlschuetter; Thomas Voit
Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.
Prostaglandins, leukotrienes, and essential fatty acids 2004;70(3):321-7.
2004: Robert Steinfeld; Alfried Kohlschuetter; Kurt Ullrich; Zoltan Lukacs
Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria.
Journal of inherited metabolic disease 2004;27(4):449-53.
2003: Claudia Heine; Jaana Tyynelä; Jonathan D Cooper; David N Palmer; Milan Elleder; Alfried Kohlschuetter; Thomas Braulke
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues.
The Biochemical journal 2003;376(Pt 2):369-76.
2003: Sacha Ferdinandusse; Barbara Finckh; Yvette C de Hingh; Lida E M Stroomer; Simone Denis; Alfried Kohlschuetter; Ronald J A Wanders
Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency.
Molecular genetics and metabolism 2003;79(4):281-7.
2003: Robert Steinfeld; Alfried Kohlschuetter; Kurt Ullrich; Zoltan Lukacs
A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.
Amino acids 2003;25(1):63-8.
2003: Christian Thiel; Markus Schwarz; Jianhe Peng; Michal Grzmil; Martin Hasilik; Thomas Braulke; Alfried Kohlschuetter; Kurt von Figura; Ludwig Lehle; Christian Körner
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
The Journal of biological chemistry 2003;278(25):22498-505.
2003: Martin Horstmann; Eva Neumaier-Probst; Zoltan Lukacs; Robert Steinfeld; Kurt Ullrich; Alfried Kohlschuetter
Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion.
Neuropediatrics 2003;34(5):261-4.
2003: Marcel Wiedemann; Anatol Kontush; Barbara Finckh; Hans-Henning Hellwege; Alfried Kohlschuetter
Neonatal blood plasma is less susceptible to oxidation than adult plasma owing to its higher content of bilirubin and lower content of oxidizable Fatty acids.
Pediatric research 2003;53(5):843-9.
2003: Zoltan Lukacs; Jutta Gieseking; Barbara Finckh; Alfried Kohlschuetter
Membrane oxidation assay--a novel lipoxygenase-based evaluation of membrane oxidizability.
Free radical research 2003;37(4):413-7.
2003: Stefan Kluge; Peter Kühnelt; Andreas Block; Martin Merkel; Andreas Gocht; Zoltan Lukacs; Alfried Kohlschuetter; Georg Kreymann
A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults.
Critical care medicine 2003;31(4):1273-6.
2003: Zoltan Lukacs; Pirkko Santavuori; Angelika Keil; Robert Steinfeld; Alfried Kohlschuetter
Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.
Clinical chemistry 2003;49(3):509-11.
2003: Zoltan Lukacs; Caroline Mordac; Alfried Kohlschuetter; Rudolf Kruithof
Use of microsphere immunoassay for simplified multianalyte screening of thyrotropin and thyroxine in dried blood spots from newborns.
Clinical chemistry 2003;49(2):335-6; author reply 336.
2003: Zoltan Lukacs; Angelika Keil; V Peters; Alfried Kohlschuetter; G F Hoffmann; Michael Cantz; Jürgen Kopitz
Towards quality assurance in the determination of lysosomal enzymes: a two-centre study.
Journal of inherited metabolic disease 2003;26(6):571-81.
2003: Eva Neumaier Probst; Christian Hagel; Vanja Weisz; Sandra Nagel; Oliver Wittkugel; Hermann Zeumer; Alfried Kohlschuetter
Atypical focal MRI lesions in a case of juvenile Alexander's disease.
Annals of neurology 2003;53(1):118-20.
2003: Claudia Rubie; Peter Lichtner; Jutta Gärtner; Markus Siekiera; Graziella Uziel; Bernd Kohlmann; Alfried Kohlschuetter; Thomas Meitinger; Gerald Stöber; Thomas Bettecken
Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
Human mutation 2003;21(1):45-52.
2002: Robert Steinfeld; Peter Heim; Henning von Gregory; Kerstin Meyer; Kurt Ullrich; Hans H Goebel; Alfried Kohlschuetter
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
American journal of medical genetics 2002;112(4):347-54.
2002: Birgit Wittenstein; Marcus Klein; Barbara Finckh; Kurt Ullrich; Alfried Kohlschuetter
Radical trapping in glycogen storage disease 1a.
European journal of pediatrics 2002;161 Suppl 1():S70-4.
2002: Robert Steinfeld; Alfried Kohlschuetter; Johannes Zschocke; Martin Lindner; Kurt Ullrich; Zoltan Lukacs
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.
European journal of pediatrics 2002;161(7):403-5.
2002: Birgit Wittenstein; Marcus Klein; Barbara Finckh; Kurt Ullrich; Alfried Kohlschuetter
Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia.
Free radical biology & medicine 2002;33(1):103-10.
2001: Thomas Heitzer; Barbara Finckh; Stefanie Albers; K Krohn; Alfried Kohlschuetter; Thomas Meinertz
Beneficial effects of alpha-lipoic acid and ascorbic acid on endothelium-dependent, nitric oxide-mediated vasodilation in diabetic patients: relation to parameters of oxidative stress.
Free radical biology & medicine 2001;31(1):53-61.
2001: K Oexle; Alfried Kohlschuetter
Cause of progression in Duchenne muscular dystrophy: impaired differentiation more probable than replicative aging.
Neuropediatrics 2001;32(3):123-9.
2001: Anibh M Das; R von Harlem; M Feist; Thomas Lücke; Alfried Kohlschuetter
Altered levels of high-energy phosphate compounds in fibroblasts from different forms of neuronal ceroid lipofuscinoses: further evidence for mitochondrial involvement.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5 Suppl A():143-6.
2001: Hans H Goebel; Alfried Kohlschuetter
Dementia in the neuronal ceroid-lipofuscinoses.
Advances in experimental medicine and biology 2001;487():211-7.
2000: Markus Schuelke; A Elsner; Barbara Finckh; Alfried Kohlschuetter; Christoph Hübner; Regina Brigelius-Flohé
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.
Journal of lipid research 2000;41(10):1543-51.
2000: Matthias Dürken; C Herrnring; Barbara Finckh; S Nagel; Peter Nielsen; R Fischer; Howard M Berger; Ralf M W Moison; Uwe Pichlmeier; B Kohlschütter; Axel R Zander; Alfried Kohlschuetter
Impaired plasma antioxidative defense and increased nontransferrin-bound iron during high-dose chemotherapy and radiochemotherapy preceding bone marrow transplantation.
Free radical biology & medicine 2000;28(6):887-94.
1999: C Steen; E Regula Baumgartner; M Duran; Willy Lehnert; Terttu Suormala; Ralph Fingerhut; M Stehn; Alfried Kohlschuetter
Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.
European journal of pediatrics 1999;158(9):730-3.
1999: Hans H Goebel; Sydney S Schochet; ME Jaynes; W Brück; Alfried Kohlschuetter; Faycal Hentati
Progress in neuropathology of the neuronal ceroid lipofuscinoses.
Molecular genetics and metabolism 1999;66(4):367-72.
1999: Anibh M Das; R D Jolly; Alfried Kohlschuetter
Anomalies of mitochondrial ATP synthase regulation in four different types of neuronal ceroid lipofuscinosis.
Molecular genetics and metabolism 1999;66(4):349-55.
1999: Mireille Cossée; Alexandra Dürr; Martine Schmitt; Niklas Dahl; P Trouillas; P Allinson; M Kostrzewa; A Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschuetter; U Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; F Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; M Labuda; L Montermini; J Poirier; Massimo Pandolfo
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Barbara Finckh; Anatol Kontush; JC Commentz; C Hübner; M Burdelski; Alfried Kohlschuetter
High-performance liquid chromatography-coulometric electrochemical detection of ubiquinol 10, ubiquinone 10, carotenoids, and tocopherols in neonatal plasma.
Methods in enzymology 1999;299():341-8.
1998: DD Hinson; Z R Rogers; Georg F Hoffmann; M Schachtele; R Fingerhut; Alfried Kohlschuetter; Richard I Kelley; K Michael Gibson
Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
American journal of medical genetics 1998;78(5):408-12.
1998: V Boda; Barbara Finckh; Matthias Dürken; JC Commentz; Hans-Henning Hellwege; Alfried Kohlschuetter
Monitoring erythrocyte free radical resistance in neonatal blood microsamples using a peroxyl radical-mediated haemolysis test.
Scandinavian journal of clinical and laboratory investigation 1998;58(4):317-22.
1998: Christine Zühlke; Franco Laccone; Mireille Cossée; Alfried Kohlschuetter; Michel Koenig; Eberhard Schwinger
Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
Human genetics 1998;103(1):102-5.
1998: Peter Heim; M Raghunath; L Meiss; U Heise; Raili Myllylä; Alfried Kohlschuetter; B Steinmann
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(6):708-10.
1998: Matthias Dürken; Alfried Kohlschuetter; Peter Nielsen
Non-transferrin bound iron induced by myeloablative therapy.
British journal of haematology 1998;101(2):393-4.
1998: Matthias Oechsner; C Steen; hans jörg stürenburg; Alfried Kohlschuetter
Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency.
Journal of neurology, neurosurgery, and psychiatry 1998;64(5):680-2.
1998: Ulrich Finckh; Alfried Kohlschuetter; H Schäfer; K Sperhake; J P Colombo; Andreas Gal
Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
Human mutation 1998;12(3):206-11.
1998: T Spranger; Barbara Finckh; Ralph Fingerhut; Alfried Kohlschuetter; Ulrike Beisiegel; Anatol Kontush
How different constituents of human plasma and low density lipoprotein determine plasma oxidizability by copper.
Chemistry and physics of lipids 1998;91(1):39-52.
1998: Kevin M Flanigan; Thomas O Crawford; John W Griffin; H H Goebel; Alfried Kohlschuetter; J Ranells; P R Camfield; Louis J Ptácek
Localization of the giant axonal neuropathy gene to chromosome 16q24.
Annals of neurology 1998;43(1):143-8.
1997: Peter Heim; M Claussen; B Hoffmann; E Conzelmann; Jutta Gärtner; K Harzer; Donald H Hunneman; W Köhler; G Kurlemann; Alfried Kohlschuetter
Leukodystrophy incidence in Germany.
American journal of medical genetics 1997;71(4):475-8.
1997: C Steen; D S Rosenblatt; H Scheying; H C Braeuer; Alfried Kohlschuetter
Cobalamin E (cblE) disease: a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
Journal of inherited metabolic disease 1997;20(5):705-6.
1997: Ralph Fingerhut; M Stehn; Alfried Kohlschuetter
Comparison of four different phenylalanine determination methods.
Clinica chimica acta; international journal of clinical chemistry 1997;264(1):65-73.
1997: Alfried Kohlschuetter; Ertan Mayatepek; Barbara Finckh; Christoph Hübner
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency.
Journal of inherited metabolic disease 1997;20(4):581-6.
1997: K Oexle; A Zwirner; K Freudenberg; Alfried Kohlschuetter; Astrid Speer
Examination of telomere lengths in muscle tissue casts doubt on replicative aging as cause of progression in Duchenne muscular dystrophy.
Pediatric research 1997;42(2):226-31.
1997: Martin Rücker; Barbara Finckh; Alfried Kohlschuetter; M D Menger; B Vollmar
Dietary vitamin E does not protect from endotoxin-induced hepatic microvascular dysfunction.
Cellular and molecular life sciences : CMLS 1997;53(4):294-302.
1997: Anatol Kontush; A Reich; K Baum; T Spranger; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
Plasma ubiquinol-10 is decreased in patients with hyperlipidaemia.
Atherosclerosis 1997;129(1):119-26.
1997: Anatol Kontush; T Spranger; A Reich; S Djahansouzi; B Karten; J H Braesen; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
Whole plasma oxidation assay as a measure of lipoprotein oxidizability.
BioFactors (Oxford, England) 1997;6(2):99-109.
1997: Matthias Dürken; Peter Nielsen; S Knobel; Barbara Finckh; C Herrnring; B Dresow; B Kohlschütter; Marcus Stockschläder; William H Krüger; Alfried Kohlschuetter; Axel R Zander
Nontransferrin-bound iron in serum of patients receiving bone marrow transplants.
Free radical biology & medicine 1997;22(7):1159-63.
1996: Katrin Engelmann; G Richard; Alfried Kohlschuetter; Alexander Bialasiewicz
[Rhegmatogenous retinal detachment in atrophia gyrata: pars plana vitrectomy with silicone oil instillation].
Klinische Monatsblätter für Augenheilkunde 1996;209(6):373-5.
1996: Christoph Hübner; H A Lehr; R Bodlaj; Barbara Finckh; K Oexle; S L Marklund; K Freudenberg; Anatol Kontush; Astrid Speer; K Terwolbeck; T Voit; Alfried Kohlschuetter
Wheat kernel ingestion protects from progression of muscle weakness in mdx mice, an animal model of Duchenne muscular dystrophy.
Pediatric research 1996;40(3):444-9.
1996: Anatol Kontush; Barbara Finckh; B Karten; Alfried Kohlschuetter; Ulrike Beisiegel
Antioxidant and prooxidant activity of alpha-tocopherol in human plasma and low density lipoprotein.
Journal of lipid research 1996;37(7):1436-48.
1996: Anatol Kontush; S Meyer; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
Alpha-tocopherol as a reductant for Cu(II) in human lipoproteins. Triggering role in the initiation of lipoprotein oxidation.
The Journal of biological chemistry 1996;271(19):11106-12.
1996: Jürgen Kopitz; Klaus Harzer; Alfried Kohlschuetter; B Zöller; N Blenck; Michael Cantz
Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases.
American journal of medical genetics 1996;63(1):198-202.
1996: Anatol Kontush; Christoph Hübner; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
How different constituents of low density lipoprotein determine its oxidizability by copper: a correlational approach.
Free radical research 1996;24(2):135-47.
1996: K Oexle; J Oberle; Barbara Finckh; Alfried Kohlschuetter; M Nagy; P Seibel; Jochen Seissler; C Hübner
Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 1996;104(3):212-7.
1996: A M Das; Alfried Kohlschuetter
Decreased activity of the mitochondrial ATP-synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis.
Journal of inherited metabolic disease 1996;19(2):130-2.
1995: Barbara Finckh; Anatol Kontush; JC Commentz; Christoph Hübner; M Burdelski; Alfried Kohlschuetter
Monitoring of ubiquinol-10, ubiquinone-10, carotenoids, and tocopherols in neonatal plasma microsamples using high-performance liquid chromatography with coulometric electrochemical detection.
Analytical biochemistry 1995;232(2):210-6.
1995: Anatol Kontush; Alfried Kohlschuetter; Ulrike Beisiegel
Physical properties of oxidized lipoproteins.
Biochemistry and molecular biology international 1995;37(4):707-16.
1995: Anatol Kontush; Christoph Hübner; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
Antioxidative activity of ubiquinol-10 at physiologic concentrations in human low density lipoprotein.
Biochimica et biophysica acta 1995;1258(2):177-87.
1995: P Heim; Alfried Kohlschuetter
Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): a word to pediatricians, neurologists, and ophthalmologists.
American journal of medical genetics 1995;57(2):238.
1995: Matthias Dürken; J Agbenu; Barbara Finckh; Christoph Hübner; Uwe Pichlmeier; W Zeller; K Winkler; Axel Zander; Alfried Kohlschuetter
Deteriorating free radical-trapping capacity and antioxidant status in plasma during bone marrow transplantation.
Bone marrow transplantation 1995;15(5):757-62.
1994: Anatol Kontush; Christoph Hübner; Barbara Finckh; Alfried Kohlschuetter; Ulrike Beisiegel
Low density lipoprotein oxidizability by copper correlates to its initial ubiquinol-10 and polyunsaturated fatty acid content.
FEBS letters 1994;341(1):69-73.
1994: Alfried Kohlschuetter
Neuroradiological and neurophysiological indices for neurometabolic disorders.
European journal of pediatrics 1994;153(7 Suppl 1):S90-3.
1993: Christoph Hübner; G F Hoffmann; C Charpentier; K M Gibson; Barbara Finckh; H Puhl; H A Lehr; Alfried Kohlschuetter
Decreased plasma ubiquinone-10 concentration in patients with mevalonate kinase deficiency.
Pediatric research 1993;34(2):129-33.
1993: Alfried Kohlschuetter
Vitamin E and neurological problems in childhood: a curable neurodegenerative process.
Developmental medicine and child neurology 1993;35(7):642-6.
1993: H A Lehr; M Kröber; Christoph Hübner; P Vajkoczy; Michael D Menger; Dirk Nolte; Alfried Kohlschuetter; Konrad Messmer
Stimulation of leukocyte/endothelium interaction by oxidized low-density lipoprotein in hairless mice. Involvement of CD11b/CD18 adhesion receptor complex.
Laboratory investigation; a journal of technical methods and pathology 1993;68(4):388-95.
1993: Maret G Traber; Ronald Sokol; Alfried Kohlschuetter; T Yokota; D P Muller; R Dufour; HJ Kayden
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency.
Journal of lipid research 1993;34(2):201-10.
1993: Alfried Kohlschuetter; B Schade; B Blömer; Christoph Hübner
Low erythrocyte plasmalogen and plasma docosahexaenoic acid (DHA) in juvenile neuronal ceroid-lipofuscinosis (JNCL).
Journal of inherited metabolic disease 1993;16(2):299-304.
1993: Alfried Kohlschuetter; R M Gardiner; H H Goebel
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.
Journal of inherited metabolic disease 1993;16(2):241-4.
1992: H A Lehr; M Becker; S L Marklund; Christoph Hübner; K E Arfors; Alfried Kohlschuetter; Konrad Messmer
Superoxide-dependent stimulation of leukocyte adhesion by oxidatively modified LDL in vivo.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1992;12(7):824-9.
1992: M Claussen; P Heim; J Knispel; H H Goebel; Alfried Kohlschuetter
Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders.
American journal of medical genetics 1992;42(4):536-8.
1991: H A Lehr; J P Zimmer; Christoph Hübner; E C Reisinger; Alfried Kohlschuetter; Herbert Schmitz
Dextran sulphate reduces diphenylhexatriene anisotropy in human peripheral blood lymphocytes: impact on plasma membrane fluidity and HIV-cytopathogenicity.
The Journal of antimicrobial chemotherapy 1991;28(5):677-80.
1991: H A Lehr; Christoph Hübner; Barbara Finckh; D Nolte; U Beisiegel; Alfried Kohlschuetter; Konrad Messmer
Dietary fish oil reduces leukocyte/endothelium interaction following systemic administration of oxidatively modified low density lipoprotein.
Circulation 1991;84(4):1725-31.
1991: H A Lehr; Christoph Hübner; D Nolte; Alfried Kohlschuetter; Konrad Messmer
Dietary fish oil blocks the microcirculatory manifestations of ischemia-reperfusion injury in striated muscle in hamsters.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(15):6726-30.
1991: H A Lehr; Christoph Hübner; Barbara Finckh; Sabine Angermüller; D Nolte; U Beisiegel; Alfried Kohlschuetter; Konrad Messmer
Role of leukotrienes in leukocyte adhesion following systemic administration of oxidatively modified human low density lipoprotein in hamsters.
The Journal of clinical investigation 1991;88(1):9-14.
1991: Alfried Kohlschuetter; H J Seitz; B Feldmann; W Lehnert; U Langenbeck
Glyceroluria in healthy adults, mentally ill adults and children selected for metabolic screening.
Clinica chimica acta; international journal of clinical chemistry 1991;198(3):203-7.
1991: J Kappler; P Leinekugel; Ernst Conzelmann; W J Kleijer; Alfried Kohlschuetter; T Tønnesen; M Rochel; F Freycon; Peter Propping
Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Human genetics 1991;86(5):463-70.
1991: H A Lehr; Christoph Hübner; D Nolte; Barbara Finckh; U Beisiegel; Alfried Kohlschuetter; Konrad Messmer
Oxidatively modified human low-density lipoprotein stimulates leukocyte adherence to the microvascular endothelium in vivo.
Research in experimental medicine. Zeitschrift für die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie 1991;191(2):85-90.
1990: H A Lehr; J P Zimmer; Christoph Hübner; M Ballmann; W Hachmann; W Vogel; H Baisch; P Hartter; M Albani; Alfried Kohlschuetter
Decreased binding of HIV-1 and vasoactive intestinal peptide following plasma membrane fluidization of CD4+ cells by phenytoin.
Virology 1990;179(2):609-17.
1990: J P Zimmer; H A Lehr; Christoph Hübner; S G Lindner; R Ramsperger; M Claussen; Alfried Kohlschuetter; Herbert Schmitz
Effects of membrane lipid and fluidity modifications on HIV-1 infectibility of primate lymphocytes in vitro.
Bioscience reports 1990;10(3):263-70.
1990: P C Clemens; M H Schünemann; Alfried Kohlschuetter; G F Hoffman
Phenylalanine metabolites in phenylketonuria.
The Journal of pediatrics 1990;116(4):665-6.
1990: P C Clemens; M H Schünemann; G F Hoffmann; Alfried Kohlschuetter
Plasma concentrations of phenyllactic acid in phenylketonuria.
Journal of inherited metabolic disease 1990;13(2):227-8.
1989: Christoph Hübner; S G Lindner; M Albani; M Ballmann; B Keup; M Schürmann; H Stegner; M Claussen; Alfried Kohlschuetter
Increased plasma membrane fluidity and decreased receptor availability of nonmuscle cells in myotonic dystrophy.
Journal of the neurological sciences 1989;92(2-3):205-14.
1989: C Budde-Steffen; L Grävinghoff; M Albani; Hans-Henning Hellwege; Alfried Kohlschuetter
[Nightly home artificial respiration in juvenile Pompe's disease with pulmonary hypertension and right cardiac insufficiency].
Deutsche medizinische Wochenschrift (1946) 1989;114(28-29):1114-6.
1989: Christoph Hübner; U Wiehler; S G Lindner; U Beisiegel; M Claussen; M Albani; Alfried Kohlschuetter
A membrane fluidizing factor in sera from Duchenne muscular dystrophy patients: effect on lymphocyte membranes of incubation in patient and control lipoproteins.
Pediatric research 1989;25(6):656-9.
1989: Alfried Kohlschuetter; R Rauskolb; H H Goebel; I Anton-Lamprecht; R Albrecht; H Klein
Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: an interim report.
Prenatal diagnosis 1989;9(4):289-92.
1989: H A Lehr; J P Zimmer; Christoph Hübner; E C Reisinger; Alfried Kohlschuetter; M Claussen; Herbert Schmitz; M Dietrich
Decreased plasma membrane fluidity of peripheral blood lymphocytes after diethyldithiocarbamate (DTC) therapy in HIV-infected patients.
European journal of clinical pharmacology 1989;37(5):521-3.
1988: Alfried Kohlschuetter; R Laabs; M Albani
Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability.
Acta paediatrica Scandinavica 1988;77(6):867-72.
1988: Christoph Hübner; S G Lindner; M Stern; M Claussen; Alfried Kohlschuetter
Membrane fluidity and lipid composition of rat small intestinal brush-border membranes during postnatal maturation.
Biochimica et biophysica acta 1988;939(1):145-50.
1988: K Kruse; F Hanefeld; Alfried Kohlschuetter; R Rosskamp; G Gross-Selbeck
Hyperphosphatasia with mental retardation.
The Journal of pediatrics 1988;112(3):436-9.
1988: U Steinhorst; Alfried Kohlschuetter; B Steinmann; D von Domarus
[Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation].
Fortschritte der Ophthalmologie : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1988;85(6):659-61.
1988: I Gottlob; K P Leipert; Alfried Kohlschuetter; H H Goebel
Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 1988;226(6):516-21.
1988: Alfried Kohlschuetter; Christoph Hübner; J Gärtner
Decreased membrane fluidity of lymphocytes from patients with juvenile neuronal ceroid-lipofuscinosis.
American journal of medical genetics. Supplement 1988;5():203-7.
1988: Alfried Kohlschuetter; Christoph Hübner; W Jansen; S G Lindner
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E.
Journal of inherited metabolic disease 1988;11 Suppl 2():149-52.
1987: Alfried Kohlschuetter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
European journal of pediatrics 1987;146(6):575-81.
1987: Christoph Hübner; Alfried Kohlschuetter; J Gärtner
Membrane fluidity of nonmuscle cells in Duchenne muscular dystrophy: effect on lymphocyte membranes of incubation in patient and control sera.
Pediatric research 1987;22(4):488-92.
1987: U Francke; Jeffrey F Harper; B T Darras; J M Cowan; E R McCabe; Alfried Kohlschuetter; W K Seltzer; F Saito; J Goto; J P Harpey
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
American journal of human genetics 1987;40(3):212-27.
1987: I Gottlob; H H Goebel; J Esser; K P Leipert; G Eckel; H J Kühle; Alfried Kohlschuetter
[Juvenile neuronal ceroid lipofuscinosis: electro-ophthalmologic findings in heterozygotes].
Fortschritte der Ophthalmologie : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 1987;84(3):298-300.
1987: A Bardosi; W Creutzfeldt; S DiMauro; K Felgenhauer; R L Friede; H H Goebel; Alfried Kohlschuetter; G Mayer; G Rahlf; S Servidei
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.
Acta neuropathologica 1987;74(3):248-58.
1986: Alfried Kohlschuetter; G Hausdorf
Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis.
European journal of pediatrics 1986;145(6):454-9.
1986: H H Goebel; A Bardosi; R L Friede; Alfried Kohlschuetter; M Albani; H Siemes
Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy.
Muscle & nerve 1986;9(2):165-73.
1984: G Konrad; Alfried Kohlschuetter; W Aust
[Significance of early ophthalmologic detection of Fabry disease].
Klinische Monatsblätter für Augenheilkunde 1984;185(6):535-8.
1983: Alfried Kohlschuetter; H Jacobsen
Thermostability of alpha-mannosidase in plasma from cystic fibrosis patients and carriers.
FEBS letters 1983;155(2):223-4.
1982: Alfried Kohlschuetter; K Sieg; F J Schulte; H W Hayek; H H Goebel
Infantile cardiomyopathy and neuromyopathy with beta-galactosidase deficiency.
European journal of pediatrics 1982;139(1):75-81.
1982: K Ikeda; H H Goebel; U Burck; Alfried Kohlschuetter
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis.
European journal of pediatrics 1982;138(2):179-85.
1982: Alfried Kohlschuetter; A Behbehani; U Langenbeck; M Albani; P Heidemann; G Hoffmann; J Kleineke; W Lehnert; U Wendel
A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.
European journal of pediatrics 1982;138(1):32-7.
1982: H H Goebel; Alfried Kohlschuetter; H G Lenard
Morphologic and chemical biopsy findings in mucolipidosis IV.
Clinical neuropathology 1982;1(2):73-82.
1981: H H Goebel; K Ikeda; F Schulz; U Burck; Alfried Kohlschuetter
Fingerprint profiles in lymphocytic vacuoles of mucopolysaccharidoses I-H, II, III-A, and III-B.
Acta neuropathologica 1981;55(3):247-9.
1980: H Prange; Alfried Kohlschuetter; G Ritter
[Myelin basic protein in cerebrospinal fluid in neurosyphilis (author's transl)].
Deutsche medizinische Wochenschrift (1946) 1980;105(32):1119-21.
1980: A Hori; H Orthner; Alfried Kohlschuetter; K M Schott; K Hirabayashi; K Shimokawa
CNS dysplasia in dysencephalia splanchnocystica (Gruber's syndrome). A case report.
Acta neuropathologica 1980;51(2):93-7.
1980: K Mross; B Mross; D I Wolfrum; Alfried Kohlschuetter
The electrophoretic mobility test with myelin basic protein, binding of 125I-MBP to lymphocytes, and gel electrophoresis pattern of supernatant during incubation.
Research in experimental medicine. Zeitschrift für die gesamte experimentelle Medizin einschliesslich experimenteller Chirurgie 1980;177(3):245-53.
1978: Alfried Kohlschuetter
Myelin basic protein in cerebrospinal fluid from children.
European journal of pediatrics 1978;127(3):155-61.
1978: Alfried Kohlschuetter; R Kraus-Ruppert; T Rohrer; N N Herschkowitz
Myelin studies in a case of subacute necrotizing encephalomyelopathy (SNE). Clinical, histochemical, and neurochemical investigations.
Journal of neuropathology and experimental neurology 1978;37(2):155-64.
1978: Alfried Kohlschuetter
Simultaneous determination of alpha- fetoprotein and immunoglobulin levels from a microhematocrit capillary tube.
Pediatrics 1978;61(2):301-3.
1978: H H Goebel; Alfried Kohlschuetter; H Pilz
Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease).
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 1978;176(2):61-8.
1977: H Pilz; H H Goebel; H Stefan; D Seidel; Alfried Kohlschuetter
[Biochemical diagnosis of glycogenosis type II (acid maltase deficiency) (author's transl)].
Journal of clinical chemistry and clinical biochemistry. Zeitschrift für klinische Chemie und klinische Biochemie 1977;15(12):705-8.
1977: Alfried Kohlschuetter; M Albani
[The palmitic/stearic acid ratio (P/S) in amniotic fluid for the determination of fetal lung maturity. The advantages of a simplified analysis by gas-liquid chromatography (author's transl)].
Zeitschrift für Geburtshilfe und Perinatologie 1977;181(5):358-62.
1977: G Bandlow; Alfried Kohlschuetter
[Herpes simplex causing a therapy-resistant panaritium (author's transl)].
Deutsche medizinische Wochenschrift (1946) 1977;102(20):759-60.
1977: Alfried Kohlschuetter; R Kraus-Ruppert; T Rohrer; N Herschkowitz
[Mechanism of degradation of myelin in subacute necrotizing encephalomyelopathy Leight (SNE)].
Monatsschrift für Kinderheilkunde 1977;125(5):502-3.
1977: Alfried Kohlschuetter; K Kühnle; G Broich
[Alphafetoprotein in serum of pregnant women. A new assay and practical aspects in prenatal screening for fetal neural tube malformations (author's transl)].
Zeitschrift für Geburtshilfe und Perinatologie 1977;181(2):87-90.
1976: Alfried Kohlschuetter; U N Wiesmann; N N Herschkowitz; E Ferber
Phospholipid composition of cultivated skin fibroblasts in Duchenne's muscular dystrophy.
Clinica chimica acta; international journal of clinical chemistry 1976;70(3):463-5.
1974: Alfried Kohlschuetter; D Chappuis; C Meier; O Tönz; F Vassella; N Herschkowitz
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia.
Helvetica paediatrica acta 1974;29(4):283-94.
1974: Alfried Kohlschuetter; B Pelet
Pulmonary candidiasis treated with 5-fluorocytosine.
Archives of disease in childhood 1974;49(2):154-6.
1973: Alfried Kohlschuetter; N N Herschkowitz
Sulfatide synthesis in neurons: a defect in mice with a hereditary myelination disorder.
Brain research 1973;50(2):379-85.
1968: E Ferber; P G Munder; Alfried Kohlschuetter; H Fischer
[Lysolecithin metabolism in erythrocyte membranes. Lysolecithin acylation and lysophospholipase in aging erythrocytes].
European journal of biochemistry / FEBS 1968;5(3):395-401.
1968: Alfried Kohlschuetter; E Ferber; P G Munder; H Fischer
[Acyltransferase and lysophospholipase activity of erythrocytes aged in vivo and in vitro].
Folia haematologica (Leipzig, Germany : 1928) 1968;90(2):233-40.
1968: E Ferber; P G Munder; Alfried Kohlschuetter; H Fischer
[Studies on the lysolecithin-metabolizing enzymes of intact erythrocytes and modified stromas].
Folia haematologica (Leipzig, Germany : 1928) 1968;90(2):224-32.