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Kurt Ullrich

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Nicole Muschol; Sandra Pohl; Kurt Ullrich; Andreas Gal; Ann Meyer; Thomas Braulke
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Jessica Lamp; Britta Keyser; David M Koeller; Kurt Ullrich; Thomas Braulke; Chris Mühlhausen
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
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.

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2011: Nicole Muschol; Sandra Pohl; Kurt Ullrich; Andreas Gal; Ann Meyer; Thomas Braulke
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
American journal of medical genetics. Part A 2011;155A(7):1634-9.
2011: Jessica Lamp; Britta Keyser; David M Koeller; Kurt Ullrich; Thomas Braulke; Chris Mühlhausen
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
The Journal of biological chemistry 2011;286(20):17777-84.
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: Sandra Pohl; Stephan Tiede; Katrin Marschner; Marisa Encarnação; Monica Castrichini; Katrin Kollmann; Nicole Muschol; Kurt Ullrich; Sven Müller-Loennies; Thomas Braulke
Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
The Journal of biological chemistry 2010;285(31):23936-44.
2009: B Kohlschütter; Martin Merkel; René Santer; Mikhail Tchirikov; M Ellerbrok; J Zschocke; Kurt Ullrich
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
Journal of inherited metabolic disease 2009;32 Suppl 1():S1-4.
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.
2008: Britta Keyser; Chris Mühlhausen; Achim Dickmanns; Ernst Christensen; Nicole Muschol; Kurt Ullrich; Thomas Braulke
Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Human molecular genetics 2008;17(24):3854-63.
2008: Udo Schumacher; Zoltan Lukacs; Christian Kaltschmidt; Christian Freudlsperger; Dorothea Schulz; Kai Kompisch; Reinhard Müller; Tanja K Rudolph; René Santer; Dietrich E Lorke; Kurt Ullrich
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Neurobiology of disease 2008;32(3):385-90.
2008: Britta Keyser; Markus Glatzel; Franziska Stellmer; Bastian Kortmann; Zoltan Lukacs; Stefan Kölker; Sven W Sauer; Nicole Muschol; Wilhelm Herdering; Joachim Thiem; Stephen I Goodman; David M Koeller; Kurt Ullrich; Thomas Braulke; Chris Mühlhausen
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Biochimica et biophysica acta 2008;1782(6):385-90.
2008: Daniëlle H J Martens; Jan Peter Rake; Martin Schwarz; Kurt Ullrich; David A Weinstein; Martin Merkel; Pieter J J Sauer; G Peter A Smit
Pregnancies in glycogen storage disease type Ia.
American journal of obstetrics and gynecology 2008;198(6):646.e1-7.
2008: Xiao-Qi Ding; Jens Fiehler; Brigitte Kohlschütter; Oliver Wittkugel; Ulrich Grzyska; Hermann Zeumer; Kurt Ullrich
MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.
Journal of magnetic resonance imaging : JMRI 2008;27(5):998-1004.
2008: Ann Meyer; Kai Kossow; Andreas Gal; Cordula Steglich; Chris Mühlhausen; Kurt Ullrich; Thomas Braulke; Nicole Muschol
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Human mutation 2008;29(5):770.
2008: Chris Mühlhausen; Kurt Ullrich; Birgitta C Burckhardt; Gerhard Burckhardt; Yohannes Hagos; B Keyser; Zoltan Lukacs; Thomas Braulke
Membrane translocation of glutaric acid and its derivatives.
Journal of inherited metabolic disease 2008;31(2):188-93.
2007: Ann Meyer; Kai Kossow; Andreas Gal; Chris Mühlhausen; Kurt Ullrich; Thomas Braulke; Nicole Muschol
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Pediatrics 2007;120(5):e1255-61.
2007: Franziska Stellmer; Britta Keyser; Birgitta C Burckhardt; Hermann Koepsell; Thomas Streichert; Markus Glatzel; Sabrina Jabs; Joachim Thiem; Wilhelm Herdering; David M Koeller; Stephen I Goodman; Zoltan Lukacs; Kurt Ullrich; Gerhard Burckhardt; Thomas Braulke; Chris Mühlhausen
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
Journal of molecular medicine (Berlin, Germany) 2007;85(7):763-70.
2006: Christine Hartwig; Andreas Gal; Rene Santer; Kurt Ullrich; Ulrich Finckh; Hans-Jürgen Kreienkamp
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
FEBS letters 2006;580(14):3489-92.
2006: Chris Mühlhausen; Nicola Ott; Fariba Chalajour; Derya Tilki; Folke Freudenberg; Mona Shahhossini; Joachim Thiem; Kurt Ullrich; Thomas Braulke; Süleyman Ergün
Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Pediatric research 2006;59(2):196-202.
2005: Stephan Tiede; Nicole Muschol; Gert Reutter; Michael Cantz; Kurt Ullrich; Thomas Braulke
Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
American journal of medical genetics. Part A 2005;137A(3):235-40.
2005: Chris Mühlhausen; Reinhard Schneppenheim; U Budde; Martin Merkel; Nicole Muschol; Kurt Ullrich; R Santer
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
Journal of inherited metabolic disease 2005;28(6):945-50.
2004: Stephan Tiede; Michael Cantz; Annick Raas-Rothschild; Nicole Muschol; Friederike Bürger; Kurt Ullrich; Thomas Braulke
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Human mutation 2004;24(6):535.
2004: Elke Hammer; Kerstin Kutsche; Friedrich Haag; Kurt Ullrich; Ralf Sudbrak; Rolf Peter Willig; Thomas Braulke; Bernd Kubler
Mono-allelic expression of the IGF-I receptor does not affect IGF responses in human fibroblasts.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(4):521-9.
2004: Folke Freudenberg; Zoltan Lukacs; Kurt Ullrich
3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells.
Neurobiology of disease 2004;16(3):581-4.
2004: Nicole Muschol; Stephan Storch; Diana Ballhausen; Clare E Beesley; Jan-Christoph Westermann; Andreas Gal; Kurt Ullrich; John J Hopwood; Bryan Winchester; Thomas Braulke
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Human mutation 2004;23(6):559-66.
2004: Andreas Schmidt; Bart Marescau; Ernest A Boehm; W K J Renema; Ruben Peco; Anib Das; Robert Steinfeld; Sharon Chan; Julie Wallis; Michail Davidoff; Kurt Ullrich; Ralph Waldschütz; Arend Heerschap; Peter Paul De Deyn; Stefan Neubauer; Dirk Isbrandt
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
Human molecular genetics 2004;13(9):905-21.
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: Chris Mühlhausen; Georg F Hoffmann; KA Strauss; Stefan Kölker; Jürgen G Okun; Cheryl R Greenberg; Eileen Naughten; Kurt Ullrich
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 2004;27(6):885-92.
2004: Chris Mühlhausen; Süleyman Ergün; KA Strauss; David M Koeller; Linda S Crnic; Michael Woontner; Stephen I Goodman; Kurt Ullrich; Thomas Braulke
Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.
Journal of inherited metabolic disease 2004;27(6):829-34.
2004: Stefan Kölker; David M Koeller; Sven W Sauer; Friederike Hörster; Marina A Schwab; Georg F Hoffmann; Kurt Ullrich; Jürgen G Okun
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 2004;27(6):805-12.
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: Harald E Möller; Josef Weglage; Ulrich Bick; Dirk Wiedermann; Reinhold Feldmann; Kurt Ullrich
Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria.
Pediatrics 2003;112(6 Pt 2):1580-3.
2003: W K J Renema; Andreas Schmidt; Jack J A van Asten; Frank Oerlemans; Kurt Ullrich; Bé Wieringa; Dirk Isbrandt; Arend Heerschap
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
Magnetic resonance in medicine : official journal of the Society of Magnetic Resonance in Medicine / Society of Magnetic Resonance in Medicine 2003;50(5):936-43.
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: 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: Harald E Möller; H G Koch; Josef Weglage; Folke Freudenberg; Kurt Ullrich
Investigation of the cerebral energy status in patients with glutaric aciduria type I by 31P magnetic resonance spectroscopy.
Neuropediatrics 2003;34(2):57-60.
2003: Anibh M Das; Thomas Lücke; Kurt Ullrich
Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate.
Molecular genetics and metabolism 2003;78(2):108-11.
2003: Stephan Storch; Birgit Wittenstein; Rafiqul Islam; Kurt Ullrich; William S Sly; Thomas Braulke
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
Human genetics 2003;112(2):190-4.
2003: Chris Mühlhausen; E Christensen; M Schwartz; Nicole Muschol; Kurt Ullrich; Zoltan Lukacs
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Journal of inherited metabolic disease 2003;26(7):713-4.
2002: Nicole Muschol; Ulrich Matzner; Stephan Tiede; Volkmar Gieselmann; Kurt Ullrich; Thomas Braulke
Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
The Biochemical journal 2002;368(Pt 3):845-53.
2002: Axel Neu; Henrike Neuhoff; Gerhard Trube; Susanne Fehr; Kurt Ullrich; Jochen Roeper; Dirk Isbrandt
Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.
Neurobiology of disease 2002;11(2):298-307.
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: Josef Weglage; Dirk Wiedermann; Jonas Denecke; Reinhold Feldmann; Hans Georg Koch; Kurt Ullrich; Harald E Möller
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria.
Journal of inherited metabolic disease 2002;25(6):431-6.
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: Josef Weglage; Dirk Wiedermann; Jonas Denecke; Reinhold Feldmann; Hans Georg Koch; Kurt Ullrich; Erik Harms; Harald E Möller
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria.
Annals of neurology 2001;50(4):463-7.
2001: Josef Weglage; Michael Pietsch; Reinhold Feldmann; Hans Georg Koch; J Zschocke; G Hoffmann; A Muntau-Heger; Jonas Denecke; P Guldberg; Flemming Güttler; Harald E Möller; U Wendel; Kurt Ullrich; Erik Harms
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia.
Pediatric research 2001;49(4):532-6.
2000: Harald E Möller; Kurt Ullrich; Josef Weglage
In vivo proton magnetic resonance spectroscopy in phenylketonuria.
European journal of pediatrics 2000;159 Suppl 2():S121-5.
2000: Anibh M Das; Kurt Ullrich; Dirk Isbrandt
Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.
Journal of inherited metabolic disease 2000;23(4):375-7.
2000: Anibh M Das; Ralph Fingerhut; R J Wanders; Kurt Ullrich
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.
European journal of pediatrics 2000;159(4):243-6.
1999: Martin Burdelski; Kurt Ullrich
Liver transplantation in metabolic disorders: summary of the general discussion.
European journal of pediatrics 1999;158 Suppl 2():S95-6.
1999: Josef Weglage; Michael Pietsch; Jonas Denecke; A Sprinz; Reinhold Feldmann; Michael Grenzebach; Kurt Ullrich
Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence.
Journal of inherited metabolic disease 1999;22(6):693-705.
1999: Kurt Ullrich; B Flott-Rahmel; P Schluff; Ulrich Musshoff; Anib Das; Thomas Lücke; Robert Steinfeld; E Christensen; C Jakobs; A Ludolph; A Neu; R Röper
Glutaric aciduria type I: pathomechanisms of neurodegeneration.
Journal of inherited metabolic disease 1999;22(4):392-403.
1998: H E Möller; Josef Weglage; Dirk Wiedermann; Kurt Ullrich
Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 1998;18(11):1184-91.
1998: P Schluff; B Flott-Rahmel; Volkmar Gieselmann; P Zimmer; Anib Das; Kurt Ullrich
Localization of receptors for endocytosis of lysosomal enzymes on different brain cells.
Journal of inherited metabolic disease 1998;21(3):313-7.
1998: Anibh M Das; Kurt Ullrich
Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience.
Journal of inherited metabolic disease 1998;21(3):220-3.
1998: A Freund; R Zass; Gerhard Kurlemann; Gerhard Schuierer; Kurt Ullrich
Bilateral oedema of the basal ganglia in an echovirus type 21 infection: complete clinical and radiological normalization.
Developmental medicine and child neurology 1998;40(6):421-4.
1998: A Freund; Gerhard Kurlemann; Gerhard Schuierer; Kurt Ullrich
[Tuberculous meningitis in a 13-month-old boy: a case report].
Klinische Pädiatrie 1998;210(3):132-5.
1998: B Flott-Rahmel; M Schürmann; P Schluff; Ralph Fingerhut; Ulrich Musshoff; B Fowler; Kurt Ullrich
Homocysteic and homocysteine sulphinic acid exhibit excitotoxicity in organotypic cultures from rat brain.
European journal of pediatrics 1998;157 Suppl 2():S112-7.
1998: Josef Weglage; Dirk Wiedermann; Harald E Möller; Kurt Ullrich
Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.
Journal of inherited metabolic disease 1998;21(2):181-2.
1998: Josef Weglage; Harald E Möller; Dirk Wiedermann; S Cipcic-Schmidt; J Zschocke; Kurt Ullrich
In vivo NMR spectroscopy in patients with phenylketonuria: clinical significance of interindividual differences in brain phenylalanine concentrations.
Journal of inherited metabolic disease 1998;21(1):81-2.
1997: H E Möller; Josef Weglage; Dirk Wiedermann; Peter Vermathen; Ulrich Bick; Kurt Ullrich
Kinetics of phenylalanine transport at the human blood-brain barrier investigated in vivo.
Brain research 1997;778(2):329-37.
1997: Josef Weglage; Kurt Ullrich; Michael Pietsch; B Fünders; Flemming Güttler; Erik Harms
Intellectual, neurologic, and neuropsychologic outcome in untreated subjects with nonphenylketonuria hyperphenylalaninemia. German Collaborative Study on Phenylketonuria.
Pediatric research 1997;42(3):378-84.
1997: Josef Weglage; Ulrich Bick; G Schuierer; Michael Pietsch; A Sprinz; R Zass; Kurt Ullrich
Progression of cerebral white matter abnormalities in early treated patients with phenylketonuria during adolescence.
Neuropediatrics 1997;28(4):239-40.
1997: B Flott-Rahmel; C Falter; P Schluff; Ralph Fingerhut; E Christensen; C Jakobs; Ulrich Musshoff; J D Fautek; T Deufel; A Ludolph; Kurt Ullrich
Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia I.
Journal of inherited metabolic disease 1997;20(3):387-90.
1996: S Cipcic-Schmidt; F K Trefz; B Fünders; G Seidlitz; Kurt Ullrich
German Maternal Phenylketonuria Study.
European journal of pediatrics 1996;155 Suppl 1():S173-6.
1996: Josef Weglage; B Fünders; Kurt Ullrich; André Rupp; E Schmidt
Psychosocial aspects in phenylketonuria.
European journal of pediatrics 1996;155 Suppl 1():S101-4.
1996: Kurt Ullrich; Josef Weglage; C Oberwittler; Michael Pietsch; B Fünders; H von Eckardstein; J P Colombo
Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients.
European journal of pediatrics 1996;155 Suppl 1():S74-7.
1996: Josef Weglage; Kurt Ullrich; Michael Pietsch; B Fünders; R Zass; Hans Georg Koch
Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome.
European journal of pediatrics 1996;155 Suppl 1():S26-8.
1996: Josef Weglage; E Schmidt; B Fünders; Michael Pietsch; Kurt Ullrich
Sustained attention in untreated non-PKU-hyperphenylalaninemia.
Journal of clinical and experimental neuropsychology 1996;18(3):343-8.
1996: Josef Weglage; Michael Pietsch; B Funders; Hans Georg Koch; Kurt Ullrich
Deficits in selective and sustained attention processes in early treated children with phenylketonuria--result of impaired frontal lobe functions?
European journal of pediatrics 1996;155(3):200-4.
1996: Josef Weglage; Kurt Ullrich; Michael Pietsch; B Fünders; R Zass; Hans Georg Koch
No fine motor deficits in patients with untreated non-phenylketonuria hyperphenylalaninaemia.
Acta paediatrica (Oslo, Norway : 1992) 1996;85(3):320-3.
1996: Thorsten Marquardt; Kurt Ullrich; Ralf Niehues; Hans Georg Koch; Erik Harms
Carbohydrate-deficient glycoprotein syndrome type I: determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding.
Journal of inherited metabolic disease 1996;19(2):246-50.
1995: Klaus-Peter Zimmer; H Y Naim; Hans Georg Koch; J P Colombo; Rainer Rossi; K W Schmid; T Deufel; Kurt Ullrich; E Harms
Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.
Lancet 1995;346(8989):1530-1.
1995: H E Möller; Peter Vermathen; Kurt Ullrich; Josef Weglage; Hans Georg Koch; PE Peters
In-vivo NMR spectroscopy in patients with phenylketonuria: changes of cerebral phenylalanine levels under dietary treatment.
Neuropediatrics 1995;26(4):199-202.
1995: Klaus-Peter Zimmer; I Matsuda; T Matsuura; M Mori; J P Colombo; H D Fahimi; Hans Georg Koch; Kurt Ullrich; Erik Harms
Ultrastructural, immunocytochemical and stereological investigation of hepatocytes in a patient with the mutation of the ornithine transcarbamylase gene.
European journal of cell biology 1995;67(1):73-83.
1995: Josef Weglage; Michael Pietsch; B Fünders; Hans Georg Koch; Kurt Ullrich
Neurological findings in early treated phenylketonuria.
Acta paediatrica (Oslo, Norway : 1992) 1995;84(4):411-5.
1995: Thorsten Marquardt; Kurt Ullrich; P Zimmer; Andrej Hasilik; T Deufel; Erik Harms
Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins.
European journal of cell biology 1995;66(3):268-73.
1995: H E Möller; Kurt Ullrich; Peter Vermathen; Gerhard Schuierer; Hans Georg Koch
In vivo study of brain metabolism in galactosemia by 1H and 31P magnetic resonance spectroscopy.
European journal of pediatrics 1995;154(7 Suppl 2):S8-13.
1995: Klaus-Peter Zimmer; T Matsuura; J P Colombo; Hans Georg Koch; Kurt Ullrich; T Deufel; Erik Harms; I Matsuda
A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
Journal of inherited metabolic disease 1995;18(3):356-7.
1994: Josef Weglage; Kurt Ullrich; Gerhard Schuierer; Michael Pietsch; B Fünders
No white matter abnormalities in untreated patients with persistent hyperphenylalaninaemia: findings in magnetic resonance imaging. German PKU Collaborative Study.
European journal of pediatrics 1994;153(12):918-9.
1994: Kurt Ullrich; H Möller; Josef Weglage; Gerhard Schuierer; Ulrich Bick; A Ludolph; H Hahn-Ullrich; B Fünders; Hans Georg Koch
White matter abnormalities in phenylketonuria: results of magnetic resonance measurements.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1994;407():78-82.
1994: Kurt Ullrich; Josef Weglage; Gerhard Schuierer; B Fünders; Michael Pietsch; Hans Georg Koch; H Hahn-Ullrich
Cranial MRI in PKU: evaluation of a critical threshold for blood phenylalanine.
Neuropediatrics 1994;25(5):278-9.
1994: Kurt Ullrich
Screening for lysosomal disorders.
European journal of pediatrics 1994;153(7 Suppl 1):S38-43.
1994: Kurt Ullrich; Josef Weglage; C Oberwittler; Michael Pietsch; B Fünders; H van Eckhardstein; J P Colombo
Effect of L-dopa on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria.
Journal of inherited metabolic disease 1994;17(3):349-52.
1993: Ulrich Bick; Kurt Ullrich; U Stöber; H Möller; Gerhard Schuierer; A C Ludolph; C Oberwittler; Josef Weglage; U Wendel
White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings.
European journal of pediatrics 1993;152(12):1012-20.
1993: Josef Weglage; B Fünders; A von Teeffelen-Heithoff; Kurt Ullrich
[Phenylketonuria--change in therapeutic strategies. Study of intellectual development and dietary compliance of young phenylketonuria patients].
Fortschritte der Medizin 1993;111(31):485-8.
1993: Josef Weglage; B Fünders; A von Teeffelen-Heithoff; Kurt Ullrich
[Phenylketonuria: illness experience and coping mechanisms].
Zeitschrift für Kinder- und Jugendpsychiatrie 1993;21(3):156-62.
1993: H Hahn-Ullrich; Joachim Sciuk; P Bartenstein; P Kreysing; Kurt Ullrich
Effective renal plasma flow in patients with glycogen storage disease type I.
European journal of pediatrics 1993;152(8):674-6.
1993: Josef Weglage; B Fünders; B Wilken; A van Teeffelen-Heithoff; Kurt Ullrich
[Treatment of phenylketonuria: wish and reality].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1993;141(8):670-4.
1993: Josef Weglage; B Fünders; B Wilken; D Schubert; Kurt Ullrich
School performance and intellectual outcome in adolescents with phenylketonuria.
Acta paediatrica (Oslo, Norway : 1992) 1993;82(6-7):582-6.
1993: A C Ludolph; H Masur; C Oberwittler; H G Koch; Kurt Ullrich
Sensory neuropathy and vitamin B6 treatment in homocystinuria.
European journal of pediatrics 1993;152(3):271.
1993: Gerd Schmitz; Helge Hohage; Kurt Ullrich
Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia.
European journal of pediatrics 1993;152 Suppl 1():S77-84.
1993: Josef Weglage; Gerhard Schuierer; Gerhard Kurlemann; R Bick; Kurt Ullrich
Different degrees of white matter abnormalities in untreated phenylketonurics: findings in magnetic resonance imaging.
Journal of inherited metabolic disease 1993;16(6):1047-8.
1992: Gerhard Kurlemann; R Ziegler; M Grüneberg; T Bömelburg; Kurt Ullrich; D G Palm
Disturbance of GABA metabolism in pyridoxine-dependent seizures.
Neuropediatrics 1992;23(5):257-9.
1992: Josef Weglage; B Fünders; B Wilken; D Schubert; E Schmidt; Peter Burgard; Kurt Ullrich
Psychological and social findings in adolescents with phenylketonuria.
European journal of pediatrics 1992;151(7):522-5.
1992: A C Ludolph; Kurt Ullrich; S Nedjat; H Masur; Ulrich Bick
Neurological outcome in 22 treated adolescents with hyperphenylalaninemia. A clinical and electrophysiological study.
Acta neurologica Scandinavica 1992;85(4):243-8.
1991: Bernd Dworniczak; Luba Kalaydjieva; C Aulehla-Scholz; Kurt Ullrich; Ivo Kremensky; B Radeva; Jürgen Horst
Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.
Human genetics 1991;87(6):731-3.
1991: A C Ludolph; Kurt Ullrich; Ulrich Bick; G Fahrendorf; H Przyrembel
Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study.
Acta neurologica Scandinavica 1991;83(3):161-5.
1991: Ulrich Bick; G Fahrendorf; A C Ludolph; P Vassallo; Josef Weglage; Kurt Ullrich
Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging.
European journal of pediatrics 1991;150(3):185-9.
1990: E G Eising; W Auffermann; PE Peters; H Schmidt; Kurt Ullrich
[Focal peliosis of the adult liver in combination with glycogenosis type I (v.Gierke). A case report and review of the recent literature].
Der Radiologe 1990;30(9):428-32.
1990: R Korinthenberg; Kurt Ullrich; J Ritter; U Stephani
Electrolytes, amino acids and proteins in lumbar CSF during the treatment of acute leukemia in childhood.
Acta paediatrica Scandinavica 1990;79(3):335-42.
1990: G Peter A Smit; J Fernandes; J V Leonard; E E Matthews; S W Moses; M Odievre; Kurt Ullrich
The long-term outcome of patients with glycogen storage diseases.
Journal of inherited metabolic disease 1990;13(4):411-8.
1989: R Ziegler; H Schmidt; A C Sewell; Josef Weglage; J H von Lengerke; Kurt Ullrich
[Aspartylglucosaminuria. Clinical description of 2 German patients].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1989;137(8):454-7.
1989: H Schmidt; H Mannkopf; Kurt Ullrich; H J von Lengerke
Osteomesopycnosis. A new case.
Pediatric radiology 1989;19(6-7):489-92.
1989: Kurt Ullrich; D von Bassewitz; J Shin; R Korinthenberg; S Sewell; Kurt von Figura
Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase.
Progress in clinical and biological research 1989;306():163-71.
1988: H Schmidt; R Ziegler; Kurt Ullrich; J H von Lengerke; A C Sewell
[Skeletal changes in 2 German children with aspartylglycosaminuria].
RöFo : Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin 1988;149(2):143-6.
1988: Kurt Ullrich; H Schmidt; A van Teeffelen-Heithoff
Glycogen storage disease type I and III and pyruvate carboxylase deficiency: results of long-term treatment with uncooked cornstarch.
Acta paediatrica Scandinavica 1988;77(4):531-6.
1988: J Fernandes; J V Leonard; S W Moses; M Odièvre; M di Rocco; J Schaub; G Peter A Smit; Kurt Ullrich; P Durand
Glycogen storage disease: recommendations for treatment.
European journal of pediatrics 1988;147(3):226-8.
1988: C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; Kurt Ullrich; K Olek; Jürgen Horst
Phenylketonuria: distribution of DNA diagnostic patterns in German families.
Human genetics 1988;78(4):353-5.
1988: H Gröbe; H Seibold; Kurt Ullrich; S Müller-Limmroth; R Ziegler
[Continuous subcutaneous insulin infusion in the treatment of insulin-dependent diabetes mellitus].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1988;136(2):81-4.
1988: H Schmidt; Kurt Ullrich; R Korinthenberg; PE Peters
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
Pediatric radiology 1988;19(1):54-6.
1986: Kurt Ullrich; H Gröbe; R Korinthenberg; D B von Bassewitz
Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.
Pathology, research and practice 1986;181(5):627-32.
1983: Kurt Ullrich; H Gröbe; J Pfefferkorn; K M Müller; D B von Bassewitz
[Liver cirrhosis due in alpha-1-antitrypsinin deficiency and development of an arteriovenous shunts of the lungs].
Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft für Kinderheilkunde 1983;131(10):740-2.
1983: H Gröbe; Kurt Ullrich
Glycogen storage disease type I. Results of treatment with frequent daytime feeding, combined with nocturnal intragastric feeding and with administration of an alpha-glucosidase inhibitor.
European journal of pediatrics 1983;140(2):102-4.
1982: D B von Bassewitz; H Gröbe; Kurt Ullrich
[Atypical clinical forms of Type II glycogenosis (Pompe)].
Verhandlungen der Deutschen Gesellschaft für Pathologie 1982;66():319-23.