C. Mühlhausen

发表

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.

Abdul Waheed, Jessica Schmiesing, Stephan Storch, 2018, Cell reports.

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5.

Yingming Zhao, Brett S. Peterson, O. Ilkayeva, 2014, Cell metabolism.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

M. Knaap, Z. Lukacs, R. Santer, 2014, Journal of Inherited Metabolic Disease.

Diagnosis and management of glutaric aciduria type I – revised recommendations

M. Durán, C. Greenberg, E. Christensen, 2011, Journal of Inherited Metabolic Disease.

Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness

T. Meitinger, T. Strom, F. Kortüm, 2019 .

TMEM165 Deficiency: Postnatal Changes in Glycosylation.

Y. Wada, T. Marquardt, R. Santer, 2015, JIMD reports.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.

M. Baumgartner, M. Landolt, S. Kölker, 2017, JIMD reports.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

B. Keyser, E. Christensen, A. Dickmanns, 2008, Human molecular genetics.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3

G. Burckhardt, H. Koepsell, M. Glatzel, 2007, Journal of Molecular Medicine.

Endothelial Effects of 3-Hydroxyglutaric Acid: Implications for Glutaric Aciduria Type I

S. Ergün, T. Braulke, C. Mühlhausen, 2006, Pediatric Research.

Use of guidelines improves the neurological outcome in glutaric aciduria type I

I. Harting, J. Zschocke, S. Kölker, 2010, Annals of neurology.

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures.

J. Schmiesing, C. Mühlhausen, J. Ivanisevic, 2019, Molecular genetics and metabolism.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

M. Baumgartner, À. García‐Cazorla, J. Zeman, 2016, Journal of Inherited Metabolic Disease.

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

T. Braulke, C. Mühlhausen, A. Gal, 2007, Pediatrics.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells*

B. Keyser, T. Braulke, C. Mühlhausen, 2011, The Journal of Biological Chemistry.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

M. Kemper, R. Santer, C. Mühlhausen, 2018, JIMD reports.

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.

M. Schweizer, C. Meyer-Schwesinger, T. Braulke, 2013, Biochimica et biophysica acta.

Membrane translocation of glutaric acid and its derivatives

G. Burckhardt, B. Keyser, Z. Lukacs, 2008, Journal of Inherited Metabolic Disease.

Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias

G. Burckhardt, T. Braulke, C. Mühlhausen, 2008, Pflügers Archiv - European Journal of Physiology.

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

S. Kölker, G. Hoffmann, P. Burgard, 2013, Journal of Inherited Metabolic Disease.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Johannes Zschocke, Thomas Opladen, I. Harting, 2017, Journal of Inherited Metabolic Disease.

Disease‐causing mutations affecting surface residues of mitochondrial glutaryl‐CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture

H. Tidow, M. Schweizer, S. Gersting, 2017, Human molecular genetics.

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies

P. Striano, S. Auvin, C. Mühlhausen, 2021, Expert review of neurotherapeutics.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.

C. Greenberg, A. Schlune, S. Kölker, 2012, Molecular genetics and metabolism.

AP‐1 and AP‐3 Mediate Sorting of Melanosomal and Lysosomal Membrane Proteins into Distinct Post‐Golgi Trafficking Pathways

K. von Figura, R. Tikkanen, D. Wenzel, 2008, Traffic.

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

C. Harding, S. Kölker, J. Okun, 2006, Journal of neurochemistry.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.

M. Baumgartner, A. Schlune, M. Landolt, 2016, JIMD reports.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I

K. Strauss, S. Ergün, T. Braulke, 2004, Journal of Inherited Metabolic Disease.

The Mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A Syndrome)

T. Braulke, C. Mühlhausen, A. Gal, 2008, Human mutation.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American Journal of Human Genetics.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

F. Sterky, E. Samuelsson, J. Gärtner, 2021, EMBO molecular medicine.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

C. Largiadèr, K. Tsiakas, J. Häberle, 2008, Molecular genetics and metabolism.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

M. Baumgartner, S. Grünert, T. Marquardt, 2018, Annals of neurology.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

I. Harting, J. Zschocke, S. Kölker, 2009, Brain : a journal of neurology.

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

M. Schwartz, E. Christensen, Z. Lukacs, 2003, Journal of Inherited Metabolic Disease.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

M. Glatzel, B. Keyser, Z. Lukacs, 2008, Biochimica et biophysica acta.

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency

K. Strauss, C. Greenberg, S. Kölker, 2004, Journal of Inherited Metabolic Disease.

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

M. Baumgartner, S. Kölker, J. Schmiesing, 2020, Journal of inherited metabolic disease.

Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins

H. Schlüter, T. Braulke, J. Schmiesing, 2014, PloS one.

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

M. Baumgartner, S. Grünert, S. Kölker, 2021, Scientific Reports.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Animal models for glutaryl-CoA dehydrogenase deficiency

M. Wajner, S. Kölker, C. Mühlhausen, 2004, Journal of Inherited Metabolic Disease.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

M. Merkel, R. Santer, C. Mühlhausen, 2005, Journal of Inherited Metabolic Disease.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

T. Marquardt, J. Gärtner, C. Mühlhausen, 2020, JIMD reports.