Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Boy, Nikolas, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R., Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer, Jana, Hoffmann, Georg F., Mühlhausen, Chris, Maier, Esther M., Ensenauer, Regina, Garbade, Sven F., Kölker, Stefan
Published in Annals of neurology (01.05.2018)
Published in Annals of neurology (01.05.2018)
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Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability
Brogden, Graham, Shammas, Hadeel, Walters, Friederike, Maalouf, Katia, Das, Anibh M, Naim, Hassan Y, Rizk, Sandra
Published in International journal of molecular sciences (19.03.2020)
Published in International journal of molecular sciences (19.03.2020)
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E M Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A, Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M, Freisinger, Peter, Grünert, Sarah C, Krämer, Johannes, Baumgartner, Matthias R, Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F, Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F, Maier, Esther M, Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (29.09.2021)
Published in Scientific reports (29.09.2021)
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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
de Ru, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published in Orphanet journal of rare diseases (10.08.2011)
Published in Orphanet journal of rare diseases (10.08.2011)
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Conference Proceeding
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (12.10.2021)
Published in Scientific reports (12.10.2021)
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Rapid steroid hormone quantification for congenital adrenal hyperplasia (CAH) in dried blood spots using UPLC liquid chromatography–tandem mass spectrometry
Janzen, Nils, Sander, Stefanie, Terhardt, Michael, Steuerwald, Ulrike, Peter, Michael, Das, Anibh M., Sander, Johannes
Published in Steroids (11.12.2011)
Published in Steroids (11.12.2011)
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One liver for four children: first clinical series of liver cell transplantation for severe neonatal urea cycle defects
Meyburg, Jochen, Das, Anibh M, Hoerster, Friederike, Lindner, Martin, Kriegbaum, Heinz, Engelmann, Guido, Schmidt, Jan, Ott, Michael, Pettenazzo, Andrea, Luecke, Thomas, Bertram, Harald, Hoffmann, Georg F, Burlina, Alberto
Published in Transplantation (15.03.2009)
Published in Transplantation (15.03.2009)
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Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis
Janzen, Nils, Hofmann, Alejandro D, Schmidt, Gunnar, Das, Anibh M, Illsinger, Sabine
Published in Orphanet journal of rare diseases (21.12.2017)
Published in Orphanet journal of rare diseases (21.12.2017)
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Journal Article
Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro
Brogden, Graham, Shammas, Hadeel, Maalouf, Katia, Naim, Samara L, Wetzel, Gabi, Amiri, Mahdi, von Köckritz-Blickwede, Maren, Das, Anibh M, Naim, Hassan Y
Published in Bioscience reports (30.04.2017)
Published in Bioscience reports (30.04.2017)
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Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)
Nessler, Jasmin, Hug, Petra, Mandigers, Paul J J, Leegwater, Peter A J, Jagannathan, Vidhya, Das, Anibh M, Rosati, Marco, Matiasek, Kaspar, Sewell, Adrian C, Kornberg, Marion, Hoffmann, Marina, Wolf, Petra, Fischer, Andrea, Tipold, Andrea, Leeb, Tosso
Published in Genes (09.07.2020)
Published in Genes (09.07.2020)
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Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation
Maier, Stefanie, Zivicnjak, Miroslav, Grigull, Lorenz, Hennermann, Julia B., Aries, Charlotte, Maecker‐Kolhoff, Britta, Sauer, Martin, Das, Anibh M., Beier, Rita
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Mitochondrial DNA Depletion and Respiratory Chain Activity in Primary Human Subcutaneous Adipocytes Treated with Nucleoside Analogue Reverse Transcriptase Inhibitors
STANKOV, Metodi V, LÜCKE, Thomas, DAS, Anibh M, SCHMIDT, Reinhold E, BEHRENS, Georg M. N
Published in Antimicrobial Agents and Chemotherapy (01.01.2010)
Published in Antimicrobial Agents and Chemotherapy (01.01.2010)
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence
Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, Jean‐Francois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette
Published in JIMD reports (01.03.2020)
Published in JIMD reports (01.03.2020)
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Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene
Das, Anibh M, Illsinger, Sabine, Lucke, Thomas, Hartmann, Hans, Ruiter, Jos P.N, Steuerwald, Ulrike, Waterham, Hans R, Duran, Marinus, Wanders, Ronald J.A
Published in Clinical chemistry (Baltimore, Md.) (01.03.2006)
Published in Clinical chemistry (Baltimore, Md.) (01.03.2006)
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Macro-AST: misleading finding in an adolescent with MCAD-deficiency
Das, Anibh M, Drache, Sabine, Janzen, Nils, Franke, Andreas
Published in BMC gastroenterology (30.08.2012)
Published in BMC gastroenterology (30.08.2012)
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LMS-Based Pediatric Reference Values for Parameters of Phosphate Homeostasis in the HARP Cohort
Pott, Veronika, Tietze, Helene, Kanzelmeyer, Nele, von der Born, Jeannine, Baumann, Ulrich, Mindermann, Charlotte, Suhlrie, Adriana, Drube, Jens, Melk, Anette, Das, Anibh M, Schnabel, Dirk, Haffner, Dieter, Leifheit-Nestler, Maren
Published in The journal of clinical endocrinology and metabolism (20.02.2024)
Published in The journal of clinical endocrinology and metabolism (20.02.2024)
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