List of works - Johannes Häberle

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia

scientific article published on 05 March 2019

A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency

scientific article published on 02 April 2019

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

scientific article published on 3 December 2016

Adult onset type II citrullinemia--a great masquerader

scientific article published on 01 January 2020

Analysis of the Qatari R336C cystathionine β-synthase protein in mice

scientific article published on 10 July 2019

Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures

scientific article published on 14 April 2019

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

scientific article published on 05 February 2019

Carbonic Anhydrase VA Deficiency

Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia

scientific article published on 01 May 2012

Citrin deficiency: A treatable cause of acute psychosis in adults

scientific article published on 01 March 2015

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy

scientific article published in October 2013

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders ⬇️

scientific article published on April 27, 2013

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

scientific article

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

scientific article published on 6 March 2014

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Coagulation Disturbances in Patients with Argininemia

scientific article published on 24 October 2018

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

scientific article published on 26 February 2015

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

scientific article published on 13 March 2019

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

scientific article

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

scientific article published on 19 May 2015

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency ⬇️

scientific article published on 01 June 2003

Cysteamine revisited: repair of arginine to cysteine mutations.

scientific article published on 22 June 2017

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

scientific article published on 25 February 2016

Diagnosis of N‐acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense‐mediated mRNA decay ⬇️

scientific article published on January 1, 2003

Editorial

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.

scientific article published on 26 December 2017

First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).

scientific article published on 25 July 2017

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

scientific article

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

scientific article

Glycogen storage disease type VI: clinical course and molecular background

scientific article published on 26 November 2019

Guidelines for acute management of hyperammonemia in the Middle East region.

scientific article published on 31 March 2016

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

article

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

scientific article published on 26 January 2017

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

scientific article published on 09 January 2020

In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies

article

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

scientific journal article

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

scientific article published on 09 September 2019

Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

scientific article

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

scientific article published in August 2016

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

scientific article

Mutation analysis in patients with N-acetylglutamate synthase deficiency ⬇️

scientific article published on June 1, 2003

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

scientific article published on 21 June 2018

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

scientific article published on 23 January 2017

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

scientific article published in Scientific Reports

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

scientific article published on 08 May 2019

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

scientific article published on 25 February 2018

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency

scientific article published on 9 March 2017

Of ammonia and orotic acid and their importance for clinical neuropediatrics

scientific article published on 24 March 2015

Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1 ⬇️

scientific article published on April 23, 2012

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

scientific article published on 02 October 2020

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

scientific article published on 11 June 2014

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

scientific article published on 10 August 2011

Response to Baertling et al

scientific article published on 22 October 2019

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency ⬇️

scientific article published on 02 August 2011

Role of mutation analysis for the diagnosis of inborn errors of metabolism ⬇️

scientific article published on 01 May 2011

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders ⬇️

scientific article published on November 10, 2010

Sitosterolemia-10 years observation in two sisters

scientific article published on 28 May 2019

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

scientific article published on 15 May 2019

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency

scientific article

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

scientific article published on 20 February 2017

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders

scientific article published on 08 March 2018

The natural history of classic galactosemia: lessons from the GalNet registry

scientific article published on 27 April 2019

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

scientific article published on 15 April 2015

Transient fulminant liver failure as an initial presentation in citrullinemia type I ⬇️

scientific article published on December 16, 2010

Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector

scientific article published on 13 June 2019

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

scientific article

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

scientific article published on 18 April 2014

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

scientific article

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

scientific article published on 19 August 2019

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

scientific article published on 01 October 2018

Urea cycle disorders-update

scientific article published on 20 May 2019

List of works by Johannes Häberle

A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia

A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

Adult onset type II citrullinemia--a great masquerader

Analysis of the Qatari R336C cystathionine β-synthase protein in mice

Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

Carbonic Anhydrase VA Deficiency

Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia

Citrin deficiency: A treatable cause of acute psychosis in adults

Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders ⬇️

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Coagulation Disturbances in Patients with Argininemia

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency ⬇️

Cysteamine revisited: repair of arginine to cysteine mutations.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

Diagnosis of N‐acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense‐mediated mRNA decay ⬇️

Editorial

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.

First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Glycogen storage disease type VI: clinical course and molecular background

Guidelines for acute management of hyperammonemia in the Middle East region.

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

Identification of three novel mutations in fourteen patients with citrullinemia type 1.

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Mutation analysis in patients with N-acetylglutamate synthase deficiency ⬇️

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population

Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency

Of ammonia and orotic acid and their importance for clinical neuropediatrics

Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1 ⬇️

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

Response to Baertling et al

Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency ⬇️

Role of mutation analysis for the diagnosis of inborn errors of metabolism ⬇️

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders ⬇️

Sitosterolemia-10 years observation in two sisters

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency

Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders

The natural history of classic galactosemia: lessons from the GalNet registry

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

Transient fulminant liver failure as an initial presentation in citrullinemia type I ⬇️

Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function.

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Urea cycle disorders-update