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1

Expression of glutamate receptor subunits in human cancers

Andrzej Stepulak, Hella Luksch, Christine Gebhardt, Ortrud Uckermann, Jenny Marzahn, Marco Sifringer, Wojciech Rzeski, Christian Staufner, Katja S. Brocke, Lechoslaw Turski, Chrysanthy Ikonomidou

Journal:

Histochemistry and Cell Biology

Year:

2009

Language:

english

File:

PDF, 544 KB

english, 2009

2

O9-2 Expression of glutamate receptors in pediatric tumours of the central nervous system

H. Luksch, C. Staufner, J. Marzahn, G. Schackert, A. Temme, C. Ikonomidou, K. Geiger, K.S. Brocke

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 58 KB

english, 2009

3

Algorithm for early diagnosis in nontuberculous mycobacterial lymphadenitis

C Staufner, O Sommerburg, S Holland-Cunz

Journal:

Acta Paediatrica

Year:

2012

Language:

english

File:

PDF, 113 KB

english, 2012

4

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hof

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 495 KB

english, 2012

5

Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases

Christian Staufner,Verena Peters

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 54 KB

english, 2014

6

Methodology to Produce Locally Heat-Treated EN AW-5182 Aluminum Alloy Sheet Metal Parts

Sulzberger, Andreas Magnus, Merklein, Marion, Staufner, Wolfgang, Wortberg, Daniel

Journal:

Key Engineering Materials

Year:

2012

Language:

english

File:

PDF, 1.19 MB

english, 2012

7

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 757 KB

english, 2015

8

Glutamate receptors in pediatric tumors of the central nervous system

Brocke, Katja S., Staufner, Christian, Luksch, Hella, Geiger, Kathrin D., Stepulak, Andrzej, Marzahn, Jenny, Schackert, Gabriele, Temme, Achim, Ikonomidou, Chrysanthy

Journal:

Cancer Biology & Therapy

Year:

2010

Language:

english

File:

PDF, 1.87 MB

english, 2010

9

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 4.97 MB

english, 2016

10

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Staufner, Christian, Lindner, Martin, Dionisi-Vici, Carlo, Freisinger, Peter, Dobbelaere, Dries, Douillard, Claire, Makhseed, Nawal, Straub, Beate K., Kahrizi, Kimia, Ballhausen, Diana, la Marca, Gian

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 3.92 MB

english, 2016

11

Genetic cause and prevalence of hydroxyprolinemia

Staufner, Christian, Haack, Tobias B., Feyh, Patrik, Gramer, Gwendolyn, Raga, Deepthi Ediga, Terrile, Caterina, Sauer, Sven, Okun, Jürgen G., Fang-Hoffmann, Junmin, Mayatepek, Ertan, Prokisch, Holger,

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 429 KB

english, 2016

12

MRI and1H-MRS in adenosine kinase deficiency

Staufner, C., Blom, H. J., Dionisi-Vici, C., Freisinger, P., Makhseed, N., Ballhausen, D., Kölker, S., Hoffmann, G. F., Harting, I.

Journal:

Year:

2016

Language:

english

File:

PDF, 623 KB

english, 2016

13

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, B

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 587 KB

english, 2017

14

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

Evers, Christina, Staufner, Christian, Granzow, Martin, Paramasivam, Nagarajan, Hinderhofer, Katrin, Kaufmann, Lilian, Fischer, Christine, Thiel, Christian, Opladen, Thomas, Kotzaeridou, Urania, Wiema

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

15

MPV17 -related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

El-Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

16

Response to Spagnoli et al.

Lenz, Dominic, Staufner, Christian

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 202 KB

english, 2018

17

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

Lenz, Dominic, Staufner, Christian, Wächter, Selina, Hagedorn, Maike, Ebersold, Juliane, Göhring, Gudrun, Kölker, Stefan, Hoffmann, Georg F., Jung-Klawitter, Sabine

Journal:

Stem Cell Research

Year:

2019

File:

PDF, 1.17 MB

2019

18

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

Kleine-Eggebrecht, Nicola, Staufner, Christian, Kathemann, Simone, Elgizouli, Magdeldin, Kopajtich, Robert, Prokisch, Holger, Lainka, Elke

Journal:

Year:

2019

Language:

english

File:

PDF, 1.24 MB

english, 2019

19

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A

Lenz, Dominic, Staufner, Christian, Wächter, Selina, Hagedorn, Maike, Ebersold, Juliane, Göhring, Gudrun, Kölker, Stefan, Hoffmann, Georg F., Jung-Klawitter, Sabine

Journal:

Stem Cell Research

Year:

2019

Language:

english

File:

PDF, 1.17 MB

english, 2019

20

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicol

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 2.71 MB

english, 2019

21

Early Exchange Transfusion to Treat Neonates with Gestational Alloimmune Liver Disease – An 11-Year Cohort Study

Fischer, Hendrik Stefan, Staufner, Christian, Sallmon, Hannes, Henning, Stephan, Bührer, Christoph

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2019

File:

PDF, 564 KB

2019

22

Variability of OTC deficiency in heterozygous carriers: Case report of a family

Staufner, Christian, Zangerl, Kathrin, Hoffmann, Georg, Kölker, Stefan

Journal:

Journal of Pediatric Biochemistry

Year:

2016

File:

PDF, 358 KB

2016

23

Cardiac phenotype in propionic acidemia â Results of an observational monocentric study

Kovacevic, A., Garbade, S.F., Hoffmann, G.F., Gorenflo, M., KÃ¶lker, S., Staufner, C.

Journal:

Molecular Genetics and Metabolism

Year:

2020

Language:

english

File:

PDF, 2.49 MB

english, 2020

24

FDA orphan drug designations for lysosomal storage disorders â a cross-sectional analysis

Garbade, Sven F., Zielonka, Matthias, Mechler, Konstantin, KÃ¶lker, Stefan, Hoffmann, Georg F., Staufner, Christian, Mengel, Eugen, Ries, Markus, Silman, Israel

Journal:

Year:

2020

File:

PDF, 1.30 MB

2020

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