Chris Mühlhausen
Prof. Dr. med.
Chris Mühlhausen
  • Oberarzt
  • Facharzt für Kinder- und Jugendmedizin
Arbeitsbereich

Standort

O45 , 1. Etage
Sprachen
Deutsch (Muttersprache)
Englisch

Fachgebiete

Tätigkeitsschwerpunkte

Auszeichnungen

Mitgliedschaften

Publikationen

Zurück
  • 2018
  • 2017
  • 2016
  • 2015
  • 2014
  • 2013
  • 2012
  • 2011
  • 2010
  • 2009
  • 2008
  • 2007
  • 2006
  • 2005
  • 2004
  • 2003
Vor

Newborn screening, a disease-changing intervention for glutaric aciduria type 1
Boy N, Mengler K, Thimm E, Schiergens K, Marquardt T, Weinhold N, Marquardt I, Das A, Freisinger P, Grünert S, Vossbeck J, Steinfeld R, Baumgartner M, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann G, Mühlhausen C, Maier E, Ensenauer R, Garbade S, Kölker S
ANN NEUROL. 2018;83(5):970-979.

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity
Schmiesing J, Storch S, Dörfler A, Schweizer M, Makrypidi-Fraune G, Thelen M, Sylvester M, Gieselmann V, Meyer-Schwesinger C, Koch-Nolte F, Tidow H, Mühlhausen C, Waheed A, Sly W, Braulke T
CELL REP. 2018;24(11):2946-2956.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Boy N, Mühlhausen C, Maier E, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg C, Harting I, Hoffmann G, Karall D, Koeller D, Krawinkel M, Okun J, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S
J INHERIT METAB DIS. 2017;40(1):75-101.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
du Moulin M, Thies B, Blohm M, Oh J, Kemper M, Santer R, Mühlhausen C
JIMD reports. 2017.

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting S, Muntau A, Braulke T, Mühlhausen C
HUM MOL GENET. 2017;26(3):538-551.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Zeltner N, Baumgartner M, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt M, Huemer M
JIMD reports. 2017.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Zeltner N, Landolt M, Baumgartner M, Lageder S, Quitmann J, Sommer R, Karall D, Mühlhausen C, Schlune A, Scholl-Bürgi S, Huemer M
JIMD reports. 2017;31:1-9.

TMEM165 Deficiency: Postnatal Changes in Glycosylation
Althoff S, Grüneberg M, Reunert J, Park J, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T
2016. JIMD Reports. 1. Aufl. Springer, 21-29.

Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer J, Valayannopoulos V, Lund A, Wijburg F, Freisinger P, Barić I, Baumgartner M, Burgard P, Burlina A, Chapman K, I Saladelafont E, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter J, Zeman J, Chabrol B, Kölker S
J INHERIT METAB DIS. 2016;39(3):341-353.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Jamiolkowski D, Kölker S, Glahn E, Barić I, Zeman J, Baumgartner M, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P
J INHERIT METAB DIS. 2016;39(2):231-241.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer L, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann G, Strom T, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack T
AM J HUM GENET. 2016;98:358-362.

Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
Hermann K, Varwig-Janßen D, Budnik L, Nordholt G, Reinshagen K, Oh J, Santer R, Mühlhausen C
MONATSSCHR KINDERH. 2015;163(6):570-574.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Kölker S, Cazorla A, Valayannopoulos V, Lund A, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny H, Ortez C, Peña-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Burgard P
J INHERIT METAB DIS. 2015;38(6):1041-1057.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker S, Valayannopoulos V, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Boy S, Rasmussen M, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González M, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny H, Ortez C, Pedrón C, Pintos-Morell G, Pena-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Lund A, Cazorla A
J INHERIT METAB DIS. 2015;38(6):1059-1074.

Ambient-und Biomonitoring nach Quecksilberintoxikation
Budnik L, Hermann K, Preisser A, Nordholt G, Harth V, Mühlhausen C
2014.

Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl T, Tsiakas K, Mühlhausen C, Santer R, C W, Dr. von der Wense A, Singer D
Z GEBURTSH NEONATOL . 2014;218(06):269-270.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Mühlhausen C, Salomons G, Lukacs Z, Struys E, van der Knaap M, Ullrich K, Santer R
J INHERIT METAB DIS. 2014;37(5):775-781.

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
Schmiesing J, Schlüter H, Ullrich K, Braulke T, Mühlhausen C
PLOS ONE. 2014;9(2):e87715.

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5
Tan M, Peng C, Anderson K, Chhoy P, Xie Z, Dai L, Park J, Chen Y, Huang H, Zhang Y, Ro J, Wagner G, Green M, Madsen A, Schmiesing J, Peterson B, Xu G, Ilkayeva O, Muehlbauer M, Braulke T, Mühlhausen C, Backos D, Olsen C, McGuire P, Pletcher S, Lombard D, Hirschey M, Zhao Y
CELL METAB. 2014;19(4):605-17.

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier E, Lücke T, Hoffmann G, Müller E, Burgard P, Kölker S
J INHERIT METAB DIS. 2013;36(3):525-533.

Pseudotumor cerebri bei einem 8 Monate alten Säugling
Brückner F, Kohl B, Tholen P, Bauer A, Mühlhausen C, Tibussek D, Püst B
Päd Praxis. 2013;80(2):217-221.

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
Thies B, Meyer-Schwesinger C, Lamp J, Schweizer M, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2013;1832(10):1463-72.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S, Boy S, Heringer J, Müller E, Maier E, Ensenauer R, Mühlhausen C, Schlune A, Greenberg C, Koeller D, Hoffmann G, Haege G, Burgard P
MOL GENET METAB. 2012;107(1-2):72-80.

Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard J, Greenberg C, Boneh A, Burlina A, Burlina A, Dixon M, Duran M, Angels G, Goodman S, Koeller D, Kyllerman M, Mühlhausen C, Müller E, Okun J, Wilcken B, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2011;34(3):677-694.

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Lamp J, Keyser B, Koeller D, Ullrich K, Braulke T, Mühlhausen C
J BIOL CHEM. 2011;286(20):17777-17784.

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy S, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier E, Mühlhausen C, Haege G, Hoffmann G, Burgard P, Kölker S
ANN NEUROL. 2010;68(5):743-752.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I, Neumaier-Probst E, Seitz A, Maier E, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy N, Hoffmann G, Garbade Sven F, Kölker S
BRAIN. 2009;132(7):1764-1782.

AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.
Chapuy B, Tikkanen R, Mühlhausen C, Wenzel D, von Figura K, Höning S
TRAFFIC. 2008;9(7):1157-1172.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K, Nuoffer J, Mühlhausen C, Klaus V, Largiadèr C, Tsiakas K, Santer R, Wermuth B, Häberle J
MOL GENET METAB. 2008;94(3):292-297.

Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
Hagos Y, Krick W, Braulke T, Mühlhausen C, Burckhardt G, Burckhardt B
PFLUG ARCH EUR J PHY. 2008;457(1):223-231.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer S, Muschol N, Herdering W, Thiem J, Goodman S, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2008;1782(6):385-390.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T
HUM MOL GENET. 2008;17(24):3854-3863.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

Membrane translocation of glutaric acid and its derivatives.
Mühlhausen C, Burckhardt B, Hagos Y, Burckhardt G, Keyser B, Lukacs Z, Ullrich K, Braulke T
J INHERIT METAB DIS. 2008.

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade S, Boy N, Maier E, Meissner T, Mühlhausen C, Hennermann J, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann G
PEDIATR RES. 2007;62(3):357-363.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
Stellmer F, Keyser B, Burckhardt B, Koepsell H, Streichert T, Glatzel M, Jabs S, Thiem J, Herdering W, Koeller D, Goodman S, Lukacs Z, Ullrich K, Burckhardt G, Braulke T, Mühlhausen C
J MOL MED. 2007;85(7):763-770.

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Mühlhausen C, Ott N, Chalajour F, Tilki D, Freudenberg F, Shahhossini M, Thiem J, Ullrich K, Braulke T, Ergün S
PEDIATR RES. 2006;59(2):196-202.

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sauer S, Okun J, Fricker G, Mahringer A, Müller I, Crnic L, Mühlhausen C, Hoffmann G, Hörster F, Goodman S, Harding C, Koeller D, Kölker S
J NEUROCHEM. 2006;97(3):899-910.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-50.

Animal models for glutaryl-CoA dehydrogenase deficiency
Koeller D, Sauer S, Wajner M, de Mello C, Goodman S, Woontner M, Mühlhausen C, Okun J, Kölker S
J INHERIT METAB DIS. 2004;27(6):813-8.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
Mühlhausen C, Ergün S, Strauss K, Koeller D, Crnic L, Woontner M, Goodman S, Ullrich K, Braulke T
J INHERIT METAB DIS. 2004;27(6):829-34.

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
Mühlhausen C, Hoffmann G, Strauss K, Kölker S, Okun J, Greenberg C, Naughten E, Ullrich K
J INHERIT METAB DIS. 2004;27(6):885-92.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I
Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
J INHERIT METAB DIS. 2003;26(7):713-4.

Letzte Aktualisierung aus dem FIS: 12.11.2018 - 00:07 Uhr