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Search Results - Kohlmueller, Dirk
Search Results - Kohlmueller, Dirk
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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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Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany
by
Sommerburg, Olaf
,
Hammermann, Jutta
,
Lindner, Martin
,
Stahl, Mirjam
,
Muckenthaler, Martina
,
Kohlmueller, Dirk
,
Happich, Margit
,
Kulozik, Andreas E.
,
Stopsack, Marina
,
Gahr, Manfred
,
Hoffmann, Georg F.
,
Mall, Marcus A.
Published in
Pediatric pulmonology
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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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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 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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Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
by
Sommerburg, Olaf
,
Krulisova, Veronika
,
Hammermann, Jutta
,
Lindner, Martin
,
Stahl, Mirjam
,
Muckenthaler, Martina
,
Kohlmueller, Dirk
,
Happich, Margit
,
Kulozik, Andreas E
,
Votava, Felix
,
Balascakova, Miroslava
,
Skalicka, Veronika
,
Stopsack, Marina
,
Gahr, Manfred
,
Macek, Milan
,
Mall, Marcus A
,
Hoffmann, Georg F
Published in
Journal of cystic fibrosis
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Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strate...
by
Sommerburg, Olaf
,
Lindner, Martin
,
Muckenthaler, Martina
,
Kohlmueller, Dirk
,
Leible, Svenja
,
Feneberg, Reinhard
,
Kulozik, Andreas E.
,
Mall, Marcus A.
,
Hoffmann, Georg F.
Published in
Journal of inherited metabolic disease
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Effects of Valproate on Acylcarnitines in Children with Epilepsy Using ESI‐MS/MS
by
Werner, Tamara
,
Treiss, Irmgard
,
Kohlmueller, Dirk
,
Mehlem, Peter
,
Teich, Martin
,
Longin, Elke
,
Gerstner, Thorsten
,
Koenig, Stephan A.
,
Schulze, Andreas
Published in
Epilepsia (Copenhagen)
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Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates
by
Schulze, Andreas
,
Kohlmueller, Dirk
,
Mayatepek, Ertan
Published in
Clinica chimica acta
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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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Journal Of Cystic Fibrosis
3 results
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International Journal Of Neonatal Screening
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Clinica Chimica Acta
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Clinical Biochemistry
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Epilepsia
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Journal Of Inherited Metabolic Disease
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Newborn Screening
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Sensitivity And Specificity
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Immunoreactive Trypsinogen
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