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Institut für funktionale Gen-Analytik (IFGA) (6)
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(6)
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Enzyme activity
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Fatty acid metabolism
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Beta-ketothiolase deficiency
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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
(2017)
Grünert, Sarah Catharina
;
Schlatter, Sonja Marina
;
Schmitt, Robert Niklas
;
Gemperle-Britschgi, Corinne
;
Mrázová, Lenka
;
Balcı, Mehmet Cihan
;
Bischof, Felix
;
Çoker, Mahmut
;
Das, Anibh M.
;
Demirkol, Mübeccel
;
Vries, Maaike de
;
Gökçay, Gülden
;
Häberle, Johannes
;
Uçar, Sema Kalkan
;
Lotz-Havla, Amelie Sophia
;
Lücke, Thomas
;
Roland, Dominique
;
Rutsch, Frank
;
Santer, René
;
Schlune, Andrea
;
Staufner, Christian
;
Schwab, Karl Otfried
;
Mitchell, Grant A.
;
Sass, Jörn Oliver
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
(2018)
Mayr, Simon Julius
;
Sass, Jörn Oliver
;
Vry, Julia
;
Kirschner, Janbernd
;
Mader, Irina
;
Hövener, Jan-Bernd
;
Reiss, Jochen
;
Santamaria-Araujo, José Angel
;
Schwarz, Günter
;
Grünert, Sarah Catharina
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
(2017)
Grünert, Sarah Catharina
;
Schmitt, Robert Niklas
;
Schlatter, Sonja Marina
;
Gemperle-Britschgi, Corinne
;
Balcı, Mehmet Cihan
;
Berg, Volker
;
Çoker, Mahmut
;
Das, Anibh M.
;
Demirkol, Mübeccel
;
Derks, Terry G. J.
;
Gökçay, Gülden
;
Uçar, Sema Kalkan
;
Konstantopoulou, Vassiliki
;
Korenke, G. Christoph
;
Lotz-Havla, Amelie Sophia
;
Schlune, Andrea
;
Staufner, Christian
;
Tran, Christel
;
Visser, Gepke
;
Schwab, Karl Otfried
;
Fukao, Toshiyuki
;
Sass, Jörn Oliver
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype
(2012)
Grünert, Sarah Catharina
;
Schwab, Karl Otfried
;
Pohl, Martin
;
Sass, Jörn Oliver
;
Santer, René
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease
(2011)
Grünert, Sarah Catharina
;
Fowler, Brian
;
Superti-Furga, Andrea
;
Sass, Jörn Oliver
;
Schwab, Karl Otfried
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective
(2020)
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.
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