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Search Results - Kohlmuller, Dirk
Search Results - Kohlmuller, Dirk
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Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
by
Schulze, Andreas
,
Lindner, Martin
,
Kohlmuller, Dirk
,
Olgemoller, Katharina
,
Mayatepek, Ertan
,
Hoffmann, Georg F
Published in
Pediatrics (Evanston)
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Inactivation of the Glucocorticoid Receptor in Hepatocytes Leads to Fasting Hypoglycemia and Ameliorates Hyperglycemia in Streptozotocin-Induced Diabetes Mellitus
by
Opherk, Christian
,
Tronche, François
,
Kellendonk, Christoph
,
Kohlmüller, Dirk
,
Schulze, Andreas
,
Schmid, Wolfgang
,
Schütz, Günther
Published in
Molecular endocrinology (Baltimore, Md.)
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New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
by
Gramer, Gwendolyn
,
Wortmann, Saskia B
,
Fang-Hoffmann, Junmin
,
Kohlmüller, Dirk
,
Okun, Jürgen G
,
Prokisch, Holger
,
Meitinger, Thomas
,
Hoffmann, Georg F
Published in
International journal of neonatal screening
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Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
by
Maier, Pia
,
Jeyaweerasinkam, Sumathy
,
Eberhard, Janina
,
Soueidan, Lina
,
Hämmerling, Susanne
,
Kohlmüller, Dirk
,
Feyh, Patrik
,
Gramer, Gwendolyn
,
Garbade, Sven F
,
Hoffmann, Georg F
,
Okun, Jürgen G
,
Sommerburg, Olaf
Published in
International journal of neonatal screening
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A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between...
by
Okun, Jürgen G
,
Kölker, Stefan
,
Schulze, Andreas
,
Kohlmüller, Dirk
,
Olgemöller, Katharina
,
Lindner, Martin
,
Hoffmann, Georg F
,
Wanders, Ronald J.A
,
Mayatepek, Ertan
Published in
Biochimica et biophysica acta. Molecular and cell biology of lipids
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High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots
by
Brennenstuhl, Heiko
,
Kohlmüller, Dirk
,
Gramer, Gwendolyn
,
Garbade, Sven F.
,
Syrbe, Steffen
,
Feyh, Patrik
,
Kölker, Stefan
,
Okun, Jürgen G.
,
Hoffmann, Georg F.
,
Opladen, Thomas
Published in
Journal of inherited metabolic disease
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Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation
by
Schulze, Andreas
,
Schmidt, Christiane
,
Kohlmüller, Dirk
,
Hoffmann, Georg F
,
Mayatepek, Ertan
Published in
Clinica chimica acta
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Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
by
Reischl-Hajiabadi, Anna T.
,
Okun, Jürgen G.
,
Kohlmüller, Dirk
,
Manukjan, Georgi
,
Hegert, Sebastian
,
Durner, Jürgen
,
Schuhmann, Elfriede
,
Hörster, Friederike
,
Mütze, Ulrike
,
Feyh, Patrik
,
Hoffmann, Georg F.
,
Röschinger, Wulf
,
Janzen, Nils
,
Opladen, Thomas
Published in
Molecular genetics and metabolism
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Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
by
Monostori, Péter
,
Godejohann, Markus
,
Janda, Joachim
,
Galla, Zsolt
,
Rácz, Gábor
,
Klinke, Glynis
,
Szatmári, Ildikó
,
Zsidegh, Petra
,
Kohlmüller, Dirk
,
Kölker, Stefan
,
Hoffmann, Georg F.
,
Gramer, Gwendolyn
,
Okun, Jürgen G.
Published in
Clinical biochemistry
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Final results of the southwest German pilot study on cystic fibrosis newborn screening – Evaluation of an IRT/PAP protocol with IRT-dependent safety net
by
Sommerburg, Olaf
,
Stahl, Mirjam
,
Hämmerling, Susanne
,
Gramer, Gwendolyn
,
Muckenthaler, Martina U.
,
Okun, Jürgen
,
Kohlmüller, Dirk
,
Happich, Margit
,
Kulozik, Andreas E.
,
Mall, Marcus A.
,
Hoffmann, Georg F.
Published in
Journal of cystic fibrosis
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A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening
by
Weidler, Sophia
,
Stopsack, Konrad H
,
Hammermann, Jutta
,
Sommerburg, Olaf
,
Mall, Marcus A
,
Hoffmann, Georg F
,
Kohlmüller, Dirk
,
Okun, Jürgen G
,
Macek, Milan
,
Votava, Felix
,
Krulišová, Veronika
,
Balaščaková, Miroslava
,
Skalická, Veronika
,
Lee-Kirsch, Min Ae
,
Stopsack, Marina
Published in
Journal of cystic fibrosis
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Is n-Pentane Really an Index of Lipid Peroxidation in Humans and Animals? A Methodological Reevaluation
by
Kohlmuller, D.
,
Kochen, W.
Published in
Analytical biochemistry
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3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: A hypothesis
by
Kölker, Stefan
,
Okun, Jürgen G.
,
Hörster, Friederike
,
Assmann, Birgit
,
Ahlemeyer, Barbara
,
Kohlmüller, Dirk
,
Exner-Camps, Sonja
,
Mayatepek, Ertan
,
Krieglstein, Josef
,
Hoffmann, Georg F.
Published in
Journal of neuroscience research
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Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons
by
Kölker, Stefan
,
Okun, Jürgen G.
,
Ahlemeyer, Barbara
,
Wyse, Angela T.S.
,
Hörster, Friederike
,
Wajner, Moacir
,
Kohlmüller, Dirk
,
Mayatepek, Ertan
,
Krieglstein, Josef
,
Hoffmann, Georg F.
Published in
Journal of neuroscience research
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Accurate measurement of free camitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation
by
SCHULZE, Andreas
,
SCHMIDT, Christiane
,
KOHLMÜLLER, Dirk
,
HOFFMANN, Georg F
,
MAYATEPEK, Ertan
Published in
Clinica chimica acta
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Clinica Chimica Acta
2 results
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International Journal Of Neonatal Screening
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Journal Of Cystic Fibrosis
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Journal Of Neuroscience Research
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Analytical Biochemistry
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Biochimica Et Biophysica Acta. Molecular And Cell Biology Of Lipids
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Journal Of Inherited Metabolic Disease
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Science & Technology
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Infant, Newborn
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Medical Screening
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Sensitivity And Specificity
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Tandem Mass Spectrometry
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Amino Acid Metabolism, Inborn Errors - Diagnosis
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Cystic Fibrosis
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Genetics & Heredity
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Inborn Errors Of Metabolism
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Spectrometry, Mass, Electrospray Ionization - Methods
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