Lista de obras -

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Adult onset type II citrullinemia--a great masquerader

artículo científico publicado en 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

artículo científico publicado en 2012

Citrin deficiency: A treatable cause of acute psychosis in adults

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders ⬇️

artículo científico publicado el 27 de abril de 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de junio de 2003

Cysteamine revisited: repair of arginine to cysteine mutations.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado el 1 de enero de 2003

Editorial

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Glycogen storage disease type VI: clinical course and molecular background

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Mutation analysis in patients with N-acetylglutamate synthase deficiency ⬇️

artículo científico publicado el 1 de junio de 2003

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Of ammonia and orotic acid and their importance for clinical neuropediatrics

artículo científico publicado en 2015

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

artículo científico publicado el 23 de abril de 2012

Primary hyperammonaemia: Current diagnostic and therapeutic strategies

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado el 2 de agosto de 2011

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

artículo científico publicado el 1 de mayo de 2011

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

artículo científico publicado el 10 de noviembre de 2010

Sitosterolemia-10 years observation in two sisters

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado el 16 de diciembre de 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.

artículo científico publicado en 2016

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Urea cycle disorders-update

artículo científico publicado en 2019

Lista de obras de

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