From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1

por Das, Anibh M.
Publicado 2023

Mechanism of Action of Ketogenic Diet Treatment: Impact of Decanoic Acid and Beta—Hydroxybutyrate on Sirtuins and Energy Metabolism in Hippocampal Murine Neurons

por Dabke, Partha, Das, Anibh M.
Publicado 2020

Inborn Errors of Energy Metabolism Associated with Myopathies

por Das, Anibh M., Steuerwald, Ulrike, Illsinger, Sabine
Publicado 2010

Macro-AST: misleading finding in an adolescent with MCAD-deficiency

por Das, Anibh M, Drache, Sabine, Janzen, Nils, Franke, Andreas
Publicado 2012

Ketogenic Diet: Impact on Cellular Lipids in Hippocampal Murine Neurons

por Dabke, Partha, Brogden, Graham, Naim, Hassan Y., Das, Anibh M.
Publicado 2020

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

por Janzen, Nils, Hofmann, Alejandro D., Schmidt, Gunnar, Das, Anibh M., Illsinger, Sabine
Publicado 2017

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization

por Shammas, Hadeel, Kuech, Eva-Maria, Rizk, Sandra, Das, Anibh M., Naim, Hassan Y.
Publicado 2019

Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability

por Brogden, Graham, Shammas, Hadeel, Walters, Friederike, Maalouf, Katia, Das, Anibh M., Naim, Hassan Y., Rizk, Sandra
Publicado 2020

A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics

por Osmanovic, Alma, Förster, Alisa, Widjaja, Maylin, Auber, Bernd, Das, Anibh M., Christians, Anne, Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Publicado 2022

Predictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation

por Maier, Stefanie, Zivicnjak, Miroslav, Grigull, Lorenz, Hennermann, Julia B., Aries, Charlotte, Maecker‐Kolhoff, Britta, Sauer, Martin, Das, Anibh M., Beier, Rita
Publicado 2022

Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro

por Brogden, Graham, Shammas, Hadeel, Maalouf, Katia, Naim, Samara L., Wetzel, Gabi, Amiri, Mahdi, von Köckritz-Blickwede, Maren, Das, Anibh M., Naim, Hassan Y.
Publicado 2017

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

por 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
Publicado 2020

Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice

por Wu, Yi Shuan, Khanna, Richie, Schmith, Virginia, Lun, Yi, Shen, Jin‐Song, Garcia, Anadina, Dungan, Leo, Perry, Anthony, Martin, Lukas, Tsai, Pai‐Chi, Hamler, Rick, Das, Anibh M., Schiffmann, Raphael, Johnson, Franklin K.
Publicado 2021

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

por Levtchenko, Elena, Servais, Aude, Hulton, Sally A, Ariceta, Gema, Emma, Francesco, Game, David S, Lange, Karin, Lapatto, Risto, Liang, Hong, Sberro-Soussan, Rebecca, Topaloglu, Rezan, Das, Anibh M, Webb, Nicholas J A, Wanner, Christoph
Publicado 2022

Mitochondrial PCK2 Missense Variant in Shetland Sheepdogs with Paroxysmal Exercise-Induced Dyskinesia (PED)

por 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
Publicado 2020

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

por 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
Publicado 2011

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

por 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
Publicado 2021

Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

por 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
Publicado 2021