3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2020

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2020

Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

por Grünert, Sarah C., Sass, Jörn Oliver
Publicado 2022

Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses

por Mathis, Déborah, Sass, Jörn Oliver, Graubner, Claudia, Schoster, Angelika
Publicado 2021

Biomarkers for drug development in propionic and methylmalonic acidemias

por Longo, Nicola, Sass, Jörn Oliver, Jurecka, Agnieszka, Vockley, Jerry
Publicado 2022

Amino Acids and Inherited Amino Acid-Related Disorders

por Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O'Sullivan, Siobhan, Sass, Jörn Oliver
Publicado 2018

The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation

por Kühn, Stefan, Williams, Monray E., Dercksen, Marli, Sass, Jörn Oliver, van der Sluis, Rencia
Publicado 2023

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management

por Grünert, Sarah C, Villavicencio-Lorini, Pablo, Wermuth, Bendicht, Lehnert, Willy, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

Amino Acids Regulate Transgene Expression in MDCK Cells

por Torrente, Marta, Guetg, Adriano, Sass, Jörn Oliver, Arps, Lisa, Ruckstuhl, Lisa, Camargo, Simone M. R., Verrey, François
Publicado 2014

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

por Shafqat, Naeem, Kavanagh, Kate L., Sass, Jörn Oliver, Christensen, Ernst, Fukao, Toshiyuki, Lee, Wen Hwa, Oppermann, Udo, Yue, Wyatt W.
Publicado 2013

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino...

por Grünert, Sarah C, Brichta, Corinna M, Krebs, Andreas, Clement, Hans-Willi, Rauh, Reinhold, Fleischhaker, Christian, Hennighausen, Klaus, Sass, Jörn Oliver, Schwab, K Otfried
Publicado 2013

Genetic basis of hyperlysinemia

por Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus
Publicado 2013

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

por Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Publicado 2021

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

por Elmonem, Mohamed A., Belanger-Quintana, Amaya, Bordugo, Andrea, Boruah, Ritma, Cortès-Saladelafont, Elisenda, Endrakanti, Mounika, Giraldo, Pilar, Grünert, Sarah Catharina, Gupta, Neerja, Kabra, Madhulika, Knerr, Ina, Krämer, Johannes, Kuster, Alice, Levtchenko, Elena, Ngu, Lock-Hock, Rovira-Remisa, M. Mar, Sass, Jörn Oliver, Sykut-Cegielska, Jolanta, Tummolo, Albina, van den Heuvel, Lambertus P.
Publicado 2020

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

por Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
Publicado 2014

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extra-oral halitosis

por Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Elberink, Marijn Oude, Gilissen, Christian, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, Op den Camp, Huub J.M., Wevers, Ron A.
Publicado 2017

A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

por Rauschenberger, Katharina, Schöler, Katja, Sass, Jörn Oliver, Sauer, Sven, Djuric, Zdenka, Rumig, Cordula, Wolf, Nicole I, Okun, Jürgen G, Kölker, Stefan, Schwarz, Heinz, Fischer, Christine, Grziwa, Beate, Runz, Heiko, Nümann, Astrid, Shafqat, Naeem, Kavanagh, Kathryn L, Hämmerling, Günter, Wanders, Ronald J A, Shield, Julian P H, Wendel, Udo, Stern, David, Nawroth, Peter, Hoffmann, Georg F, Bartram, Claus R, Arnold, Bernd, Bierhaus, Angelika, Oppermann, Udo, Steinbeisser, Herbert, Zschocke, Johannes
Publicado 2010

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

por Grünert, Sarah C, Müllerleile, Stephanie, De Silva, Linda, Barth, Michael, Walter, Melanie, Walter, Kerstin, Meissner, Thomas, Lindner, Martin, Ensenauer, Regina, Santer, René, Bodamer, Olaf A, Baumgartner, Matthias R, Brunner-Krainz, Michaela, Karall, Daniela, Haase, Claudia, Knerr, Ina, Marquardt, Thorsten, Hennermann, Julia B, Steinfeld, Robert, Beblo, Skadi, Koch, Hans-Georg, Konstantopoulou, Vassiliki, Scholl-Bürgi, Sabine, van Teeffelen-Heithoff, Agnes, Suormala, Terttu, Sperl, Wolfgang, Kraus, Jan P, Superti-Furga, Andrea, Schwab, Karl Otfried, Sass, Jörn Oliver
Publicado 2013