V. Rüfenacht

发表

acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme

C. Marco-Marín, V. Rubio, E. Sancho-Vaello, 2018 .

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

C. V. van Karnebeek, S. Santra, J. Häberle, 2016, Genetics in Medicine.

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

J. Häberle, V. Rüfenacht, C. Díez-Fernández, 2017, Human mutation.

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

D. S. Froese, Georgios Makris, L. Caldovic, 2020, Biochimie.

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

J. Häberle, V. Rüfenacht, G. Lipshutz, 2019, Journal of inherited metabolic disease.

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

J. Häberle, V. Rüfenacht, Gabriella Allegri, 2020, JIMD reports.

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

J. Häberle, V. Rüfenacht, C. Díez-Fernández, 2016, Biology.

Mini-Review: Challenges in Newborn Screening for Urea Cycle Disorders

J. Häberle, V. Rüfenacht, 2015 .

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

M. Gautschi, J. Häberle, V. Rüfenacht, 2015, Molecular genetics and metabolism.

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Joshua F. Robinson, M. Sadowski, H. Willenbring, 2021, Hepatology.

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

J. Häberle, V. Rüfenacht, A. Pandey, 2015, Journal of Inherited Metabolic Disease.

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

N. Brunetti‐Pierri, D. V. van Aalten, E. Richard, 2022, Nature Communications.

Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene

J. Häberle, V. Rüfenacht, L. Wong, 2014, Human mutation.

Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria*

J. Häberle, V. Rüfenacht, A. Pandey, 2013, The Journal of Biological Chemistry.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

N. Blau, B. Thöny, G. Hoffmann, 2017, Journal of Medical Genetics.

Increased expression of the proton-sensing G protein-coupled receptor Gpr65 during retinal degeneration

C. Grimm, M. Samardzija, V. Rüfenacht, 2015, Neuroscience.

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

J. Häberle, V. Rüfenacht, Alessio Cremonesi, 2022, Journal of inherited metabolic disease.

Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland

I. Knerr, J. Häberle, V. Rüfenacht, 2020, Journal of inherited metabolic disease.

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Madalena Barroso, C. Cudalbu, S. Gersting, 2021, Molecular genetics and metabolism.

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

M. Ugarte, B. Thöny, J. Häberle, 2015, PloS one.

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

C. Marco-Marín, V. Rubio, E. Sancho-Vaello, 2016, Human mutation.

Noncoding sequence variants define a novel regulatory element in the first intron of the N‐acetylglutamate synthase gene

M. Tuchman, M. Yandell, N. Longo, 2021, Human mutation.

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

M. Tuchman, Myrthe van den Born, J. Saris, 2018, Scientific Reports.

Mutation analysis of urea cycle disorders

V. Rüfenacht, J. Aberle, 2016 .

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

V. Rubio, A. Olgaç, J. Häberle, 2014, Molecular genetics and metabolism.

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

R. Fingerhut, J. Häberle, V. Rüfenacht, 2018, Human mutation.

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

S. Strom, B. Thöny, R. Fingerhut, 2019, Journal of inherited metabolic disease.

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

S. Walitza, E. Grünblatt, R. Bruggmann, 2014, Molecular Autism.

Mutation analysis of urea cycle disorders

J. Häberle, V. Rüfenacht, 2014, Journal of Pediatric Biochemistry.

Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions

H. Blom, J. Häberle, V. Rüfenacht, 2016, Molecular Diagnosis & Therapy.

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

J. Häberle, V. Rüfenacht, A. Jalan, 2020, Journal of Fetal Medicine.

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

R. Saxena, J. Häberle, V. Rüfenacht, 2018, Orphanet Journal of Rare Diseases.

Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.

B. Thöny, J. Häberle, V. Rüfenacht, 2015, Human gene therapy methods.

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

R. Fingerhut, J. Häberle, V. Rüfenacht, 2016, Journal of Medical Genetics.

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

V. Rüfenacht, D. Rogić, T. Žigman, 2018, Biochemia medica.

Citrin deficiency: A treatable cause of acute psychosis in adults.

R. Saxena, J. Häberle, V. Rüfenacht, 2015, Neurology India.