Search Results - "Ullrich, Kurt"

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide by Mehta, Atul, Ramaswami, Uma, Muenzer, Joseph, Giugliani, Roberto, Ullrich, Kurt, Collin-Histed, Tanya, Panahloo, Zoya, Wellhoefer, Hartmann, Frader, Joel

“…Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme…”
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Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III) by Muschol, Nicole M, Pape, Daniel, Kossow, Kai, Ullrich, Kurt, Arash-Kaps, Laila, Hennermann, Julia B, Stücker, Ralf, Breyer, Sandra R

“…Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four…”
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Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins by Schmiesing, Jessica, Schlüter, Hartmut, Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris

“…Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which…”
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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) by Rake, Jan Peter, Visser, Gepke, Labrune, Philippe, Leonard, James V, Ullrich, Kurt, Smit, G Peter A

“…Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients…”
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The Iowa State Fair by Ullrich, Kurt

“…Every year in early August, a breeze borne by silent messengers from another time blows through Iowa. It carries a whiff of something wonderful, something far…”
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Reduced Cerebral Fluoro-l-Dopamine Uptake in Adult Patients Suffering from Phenylketonuria by Landvogt, Christian, Mengel, Eugen, Bartenstein, Peter, Buchholz, Hans Georg, Schreckenberger, Mathias, Siessmeier, Thomas, Scheurich, Armin, Feldmann, Reinhold, Weglage, Josef, Cumming, Paul, Zepp, Fred, Ullrich, Kurt

“…Deficiency of phenylalanine hydroxylase activity in phenylketonuria (PKU) causes an excess of phenylalanine (Phe) throughout the body, predicting impaired…”
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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I) by Rake, Jan, Visser, Gepke, Labrune, Philippe, Leonard, James, Ullrich, Kurt, Smit, Peter

“…Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients…”
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Activation of GABAA Receptors by Guanidinoacetate: A Novel Pathophysiological Mechanism by Neu, Axel, Neuhoff, Henrike, Trube, Gerhard, Fehr, Susanne, Ullrich, Kurt, Roeper, Jochen, Isbrandt, Dirk

“…Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of creatine biosynthesis. The disease occurs in early life…”
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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype by Guldberg, Per, Rey, Françoise, Zschocke, Johannes, Romano, Valentino, François, Baudouin, Michiels, Luc, Ullrich, Kurt, Hoffmann, Georg F., Burgard, Peter, Schmidt, Hildgund, Meli, Concetta, Riva, Enrica, Dianzani, Irma, Ponzone, Alberto, Rey, Jean, Güttler, Flemming

“…Phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are allelic disorders caused by mutations in the gene encoding phenylalanine hydroxylase (PAH)…”
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Pregnancies in glycogen storage disease type Ia by Martens, Daniëlle H.J., MD, Rake, Jan Peter, MD, PhD, Schwarz, Martin, MD, Ullrich, Kurt, MD, PhD, Weinstein, David A., MD, MMSc, Merkel, Martin, MD, PhD, Sauer, Pieter J.J., MD, PhD, Smit, G. Peter A., MD, PhD

“…Objective Reports on pregnancies in women with glycogen storage disease type Ia (GSD-Ia) are scarce. Because of improved life expectancy, pregnancy is becoming…”
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High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor γ: Implications for the pathophysiology of phenylketonuria by Schumacher, Udo, Lukacs, Zoltan, Kaltschmidt, Christian, Freudlsperger, Christian, Schulz, Dorothea, Kompisch, Kai, Müller, Reinhard, Rudolph, Tanja, Santer, René, Lorke, Dietrich E, Ullrich, Kurt

“…Abstract If left untreated, the common inherited metabolic disorder phenylketonuria (PKU) presents with mental retardation and reduced brain weight. The…”
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Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA by TOMATSU, Shunji, OKAMURA, Kazuo, THORNLEY, Margaret, WRAITH, E. D, BARRERA, Luis A, GIUGLIANI, Roberto, SCHWARTZ, Ida V, FRENKING, Gudrun Schulze, BECK, Michael, KIRCHER, Susanne G, PASCHKE, Eduard, YAMAGUCHI, Seiji, TAKETANI, Takeshi, ULLRICH, Kurt, ISOGAI, Koji, SUZUKI, Yasuyuki, ORII, Tadao, KONDO, Naomi, CREER, Michael, NOGUCHI, Akihiko, ORII, Koji O, NISHIOKA, Tatsuo, GUTIERREZ, Monica A, VELEZ-CASTRILLON, Susana, FACHEL, Angela A, GRUBB, Jeffrey H, COOPER, Alan

“…Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We…”
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Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity by Tsiakas, Kostas, Steinfeld, Robert, Storch, Stephan, Ezaki, Junji, Lukacs, Zoltan, Kominami, Eiki, Kohlschütter, Alfried, Ullrich, Kurt, Braulke, Thomas

“…Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by the deficiency of the lysosomal tripeptidyl peptidase-I encoded by CLN2. We previously…”
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Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease by Polovitskaya, Maya M., Rana, Tanushka, Ullrich, Kurt, Murko, Simona, Bierhals, Tatjana, Vogt, Guido, Stauber, Tobias, Kubisch, Christian, Santer, René, Jentsch, Thomas J.

“…Together with its β-subunit OSTM1, ClC-7 performs 2Cl−/H+ exchange across lysosomal membranes. Pathogenic variants in either gene cause lysosome-related…”
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Iowa and the Midwest Experience by Kurt Ullrich

“…Every year in early August, a breeze borne by silent messengers from another time blows through Iowa. It carries a whiff of something wonderful, something far…”
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Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation by Schmidt, Mona, Breyer, Sandra, Löbel, Ulrike, Yarar, Sinef, Stücker, Ralf, Ullrich, Kurt, Müller, Ingo, Muschol, Nicole

“…Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement…”
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Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells by Lamp, Jessica, Keyser, Britta, Koeller, David M., Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris

“…The inherited neurodegenerative disorder glutaric aciduria type 1 (GA1) results from mutations in the gene for the mitochondrial matrix enzyme glutaryl-CoA…”
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Clinical course in a MPS IIIA patient following hematopoietic stem cell transplantation: an eight-year follow up and comparison with the natural history in patients with identical mutations in the SGSH-gene by Koehn, Anja F., Grigull, Lorenz, Ullrich, Kurt, Muschol, Nicole Maria

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Phenylketonuria: Direct and indirect effects of phenylalanine by Schlegel, Gudrun, Scholz, Ralf, Ullrich, Kurt, Santer, René, Rune, Gabriele M.

“…High phenylalanine concentrations in the brain due to dysfunctional phenylalanine hydroxylase (Pah) are considered to account for mental retardation in…”
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Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A) by Meyer, Ann, Kossow, Kai, Gal, Andreas, Muhlhausen, Chris, Ullrich, Kurt, Braulke, Thomas, Muschol, Nicole

“…Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The…”
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