Lista de obras - Chris Mühlhausen - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

article

Animal models for glutaryl-CoA dehydrogenase deficiency

artículo científico publicado en 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado el 23 de marzo de 2011

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

scientific article published on 01 September 2018

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

artículo científico publicado en 2017

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

artículo científico publicado el 29 de marzo de 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5

artículo científico publicado en 2014

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

[Neonatal metabolic imbalance -- hyperventilation in hyperammonemia]

artículo científico publicado en 2014

Lista de obras de Chris Mühlhausen

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

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

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

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

Animal models for glutaryl-CoA dehydrogenase deficiency

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

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

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

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

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

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

TMEM165 Deficiency: Postnatal Changes in Glycosylation

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

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

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

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

[Neonatal metabolic imbalance -- hyperventilation in hyperammonemia]