Search Results - "Maier, M E"

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S

“…Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor…”
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Validation of MCADD newborn screening by Maier, EM, Pongratz, J, Muntau, AC, Liebl, B, Nennstiel-Ratzel, U, Busch, U, Fingerhut, R, Olgemöller, B, Roscher, AA, Röschinger, W

“…Medium‐chain acyl‐CoA dehydrogenase deficiency (MCADD) represents a potentially fatal fatty acid β‐oxidation disorder. Newborn screening (NBS) by tandem mass…”
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α1 Antitrypsin and the prevalence and severity of asthma by von Ehrenstein, O S, Maier, E M, Weiland, S K, Carr, D, Hirsch, T, Nicolai, T, Roscher, A A, von Mutius, E

“…In a random sample of children (aged 9–11 years; n = 5629), who were studied according to the ISAAC phase II protocol, heterozygosity of the α1 antitrypsin…”
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Very mild cases of Rett syndrome with skewed X inactivation by Huppke, P, Maier, E M, Warnke, A, Brendel, C, Laccone, F, Gärtner, J

“…Background: Rett syndrome, a common cause of mental retardation in females, is caused by mutations in the MECP2 gene. Most females with MECP2 mutations fulfil…”
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Sucrose threshold variation during the menstrual cycle by Than, T T, Delay, E R, Maier, M E

“…Sucrose thresholds were measured at three points during the menstrual cycle for 14 women who were not taking oral contraceptives. Thirteen men also were tested…”
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First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome by Strenge, S., Froster, U. G., Wanders, R. J. A., Gartner, J., Maier, E. M., Muntau, A. C., Faber, R.

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Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres by Zwickler, T., Lindner, M., Aydin, H. I., Baumgartner, M. R., Bodamer, O. A., Burlina, A. B., Das, A. M., deKlerk, J. B. C., Gökcay, G., Grünewald, S., Guffon, N., Maier, E. M., Morava, E., Geb, S., Schwahn, B., Walter, J. H., Wendel, U., Wijburg, F. A., Müller, E., Kölker, S., Hörster, F.

“…Summary The long-term outcome of patients with methylmalonic aciduria (MMA) is still uncertain due to a high frequency of complications such as chronic renal…”
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Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses by Maier, Esther M., Roscher, Adelbert A., Kammerer, Stefan, Mehnert, Karl, Conzelmann, Ernst, Holzinger, Andreas

“…Amniocentesis was performed at 17 weeks' gestation on a 39‐year‐old woman at risk of being a carrier for X‐linked adrenoleukodystrophy (X‐ALD). Her first son…”
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Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by Hörster, F., Garbade, S. F., Zwickler, T., Aydin, H. I., Bodamer, O. A., Burlina, A. B., Das, A. M., De Klerk, J. B. C., Dionisi-Vici, C., Geb, S., Gökcay, G., Guffon, N., Maier, E. M., Morava, E., Walter, J. H., Schwahn, B., Wijburg, F. A., Lindner, M., Grünewald, S., Baumgartner, M. R., Kölker, S.

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Mutations in the Proenteropeptidase Gene Are the Molecular Cause of Congenital Enteropeptidase Deficiency by Holzinger, Andreas, Maier, Esther M., Bück, Cornelius, Mayerhofer, Peter U., Kappler, Matthias, Haworth, James C., Moroz, Stanley P., Hadorn, Hans-Beat, Sadler, J. Evan, Roscher, Adelbert A.

“…Enteropeptidase (enterokinase [E.C.3.4.21.9]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic…”
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A Formal Total Synthesis of Dysidiolide by Paczkowski, Ralph, Maichle-Mössmer, Cäcilia, Maier, Martin E

“…A formal total synthesis of the natural product dysidiolide is described. Starting from a Diels−Alder reaction between an enoate and a Rawal diene, the…”
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision by Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan

“…Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location:…”
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Synthesis of Medium-Sized Rings by the Ring-Closing Metathesis Reaction by Maier, Martin E.

“…Conformational constraints are the keys for the efficient synthesis of medium‐sized rings by ring‐closing olefin metathesis (RCM). While the RCM reaction has…”
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New routes to functionalized benzazepine substructures: a novel transformation of an .alpha.-diketone thioamide induced by trimethyl phosphite by Fang, Francis G, Maier, Martin E, Danishefsky, Samuel J, Schulte, Gayle

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X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype by Maier, Esther M., Mayerhofer, Peter U., Asheuer, Muriel, Köhler, Wolfgang, Rothe, Martina, Muntau, Ania C., Roscher, Adelbert A., Holzinger, Andreas, Aubourg, Patrick, Berger, Johannes

“…Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog…”
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Synthesis of enamides from aldehydes and amides by Bayer, Alexander, Maier, Martin E.

“…A range of double unsaturated amides ( 15 , 19 , and 21 ), obtained by cross-coupling reactions was reacted with aldehydes to hemiaminals. Heating the…”
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Synthesis of the Fully Functionalized Core Structure of the Antibiotic Abyssomicin C by Rath, Jean-Philippe, Kinast, Stephan, Maier, Martin E

“…The fully functionalized core structure 23 of abyssomicin C (6) containing an oxabicyclooctane ring and a tetronate was prepared via a Diels−Alder approach…”
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Chemoenzymatic Synthesis of the C10−C23 Segment of Dictyostatin by Prusov, Evgeny, Röhm, Hartmut, Maier, Martin E

“…Employing enzymatic desymmetrization and resolution, respectively, the two aldehydes 8 and 20 were prepared. The precursor to aldehyde 8,…”
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters: Neurological manifestations of IEM in children, dedicated to Robert Surtees by HÖRSTER, F, GARBADE, S. F, GÖKCAY, G, GUFFON, N, MAIER, E. M, MORAVA, E, WALTER, J. H, SCHWAHN, B, WIJBURG, F. A, LINDNER, M, GRÜNEWALD, S, BAUMGARTNER, M. R, ZWICKLER, T, KÖLKER, S, AYDIN, H. I, BODAMER, O. A, BURLINA, A. B, DAS, A. M, DE KLERK, J. B. C, DIONISI-VICI, C, GEB, S

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Development and in vitro characterization of poly(lactide- co -glycolide) microspheres loaded with an antibacterial natural drug for the treatment of long-term bacterial infections by Reinbold, Jochen, Hierlemann, Teresa, Hinkel, Helena, Müller, Ingrid, Maier, Martin E, Weindl, Tobias, Schlensak, Christian, Wendel, Hans Peter, Krajewski, Stefanie

“…Biodegradable polymers, especially poly(lactide- -glycolide) (PLGA), have good biocompatibility and toxicological properties. In combination with active…”
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