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List of works by Chris Mühlhausen

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

scientific article published on 14 March 2007

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

scientific article published on 09 April 2008

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

scientific article published on 24 April 2013

Animal models for glutaryl-CoA dehydrogenase deficiency

scientific article published in January 2004

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

scientific article published on 27 August 2015

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

scientific article published on 19 January 2016

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

scientific article published on 01 April 2014

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

scientific article published on 4 April 2012

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

scientific article

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

scientific article published on 01 January 2005

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

scientific article published in March 2017

Diagnosis and management of glutaric aciduria type I – revised recommendations ⬇️

scientific article published on March 23, 2011

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

scientific article published on 5 January 2017

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

scientific article published on March 29, 2011

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

scientific article published on 12 July 2017

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

scientific article published on 21 December 2015

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins

scientific article (publication date: 2014)

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

scientific article published on 29 March 2006

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

scientific article published on 13 September 2012

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5

scientific article

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

scientific article published in January 2004

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

scientific article published on 06 August 2020

Newborn screening, a disease-changing intervention for glutaric aciduria type 1.

scientific article published on 17 April 2018

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

scientific article published on 16 November 2016

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

scientific article published on 15 October 2007

TMEM165 Deficiency: Postnatal Changes in Glycosylation

scientific article published on 4 August 2015

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

scientific article published on 15 April 2015

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

scientific article published on 15 April 2015

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

scientific article published on 29 February 2008

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

scientific article

[Neonatal metabolic imbalance -- hyperventilation in hyperammonemia]

scientific article published on 01 December 2014

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