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Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid BiosynthesisFrequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementationSwitch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyLow-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver PromoterFunctional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.Guidelines for acute management of hyperammonemia in the Middle East region.Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.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.Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.Cysteamine revisited: repair of arginine to cysteine mutations.Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man.Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy.Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.Clinical presentation and outcome in a series of 88 patients with the cblC defect.Identification of three novel mutations in fourteen patients with citrullinemia type 1.Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study.Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testingCoagulation Disturbances in Patients with ArgininemiaIn silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapiesN-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer RegionHyperammonaemia in classic organic acidaemias: a review of the literature and two case historiesA liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiencyThe natural history of classic galactosemia: lessons from the GalNet registrySuggested guidelines for the diagnosis and management of urea cycle disorders: First revisionRecognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutationsOf ammonia and orotic acid and their importance for clinical neuropediatrics
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description
investigador
@es
researcher
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wetenschapper
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name
Johannes Häberle
@en
Johannes Häberle
@nl
type
label
Johannes Häberle
@en
Johannes Häberle
@nl
prefLabel
Johannes Häberle
@en
Johannes Häberle
@nl
P31
P496
0000-0003-0635-091X