J. Häberle

发表

V. Rubio, H. Mandel, J. Häberle, 2019, Journal of inherited metabolic disease.

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

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

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

J. Häberle, C. Díez-Fernández, C. Díez‐Fernández, 2017, Expert opinion on therapeutic targets.

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.

Disorders of the Urea Cycle and Related Enzymes

V. Rubio, J. Häberle, 2016 .

Carbonic Anhydrase VA Deficiency

C. Karnebeek, J. Häberle, 2015 .

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

E. Christensen, J. Häberle, V. Klaus, 2009, Clinical genetics.

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

J. Denecke, J. Häberle, E. Schmidt, 2003, Journal of Inherited Metabolic Disease.

Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia

R. Wanders, J. Häberle, W. Kleijer, 2002, Human Genetics.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

H. Brunner, R. Wevers, M. Parker, 2013, European Journal of Human Genetics.

Inborn error of amino acid synthesis: Human glutamine synthetase deficiency

A. Toutain, F. Schliess, D. Häussinger, 2006, Journal of Inherited Metabolic Disease.

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.

The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.

B. Plecko, J. Häberle, J. Nuoffer, 2016, JIMD reports.

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

M. Baumgartner, C. Marco-Marín, V. Rubio, 2012, Journal of Inherited Metabolic Disease.

Nasal Staphylococcus aureus Carriage Is Not a Risk Factor for Lower-Airway Infection in Young Cystic Fibrosis Patients

R. Reintjes, F. Ratjen, J. Häberle, 2007, Journal of Clinical Microbiology.

Guidelines for acute management of hyperammonemia in the Middle East region

K. Al-Thihli, T. Ben-Omran, J. Häberle, 2016, Therapeutics and clinical risk management.

Cysteamine revisited: repair of arginine to cysteine mutations

H. Blom, T. Ben-Omran, B. Thöny, 2017, Journal of Inherited Metabolic Disease.

Usefulness of magnetic resonance spectroscopy in urea cycle disorders.

R. Guillevin, C. Azuar, J. Häberle, 2007, Pediatric neurology.

Urea cycle disorders—update

F. Endo, H. Mitsubuchi, J. Häberle, 2019, Journal of Human Genetics.

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

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

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

O. Lichtarge, V. Rubio, A. Willis, 2011, Human mutation.

Neurological Deterioration in Three Siblings: Exploring the Spectrum of Argininemia

Sandip Ray, J. Häberle, Suvasini Sharma, 2020, The Indian Journal of Pediatrics.

Coagulation Disturbances in Patients with Argininemia

T. Celkan, J. Häberle, E. Kıykım, 2018, Acta Haematologica.

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

M. Hersberger, H. Ulmer, T. Coşkun, 2016, Journal of Inherited Metabolic Disease.

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

S. Waisbren, M. Hochuli, S. Wortmann, 2019, Orphanet Journal of Rare Diseases.

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

S. Wortmann, R. Fingerhut, J. Häberle, 2021, International journal of neonatal screening.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

M. Baumgartner, S. Parker, A. Chakrapani, 2015, JIMD reports.

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

J. Zschocke, S. Kölker, G. Hoffmann, 2007, Pediatric Research.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

M. Baumgartner, M. Gautschi, M. Landolt, 2022, Molecular genetics and metabolism reports.

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia

A. Ballabio, N. Brunetti‐Pierri, A. Motta, 2017, Proceedings of the National Academy of Sciences.

Congenital glutamine deficiency with glutamine synthetase mutations.

A. Toutain, F. Schliess, D. Häussinger, 2005, The New England journal of medicine.

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.

Clinical practice

J. Häberle, 2010, European Journal of Pediatrics.

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

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

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

J. Häberle, L. Laróvere, A. Gruppi, 2022, Frontiers in Immunology.

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

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

Natural course of glutamine synthetase deficiency in a 3 year old patient.

T. Ben-Omran, G. Hoffmann, J. Häberle, 2011, Molecular genetics and metabolism.

Proven germline mosaicism in a father of two children with CHARGE syndrome

J. Häberle, P. Burfeind, P. Grzmil, 2009, Clinical genetics.

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

F. Brancati, G. Novelli, U. Kornak, 2012, American journal of medical genetics. Part A.

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

R. Wevers, E. Morava, J. Häberle, 2011, American journal of medical genetics. Part A.

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

M. Baumgartner, A. Kariminejad, J. Häberle, 2011, Journal of Inherited Metabolic Disease.

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

J. A. Arranz, J. Häberle, C. Angaroni, 2019, Orphanet Journal of Rare Diseases.

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

G. Hoffmann, J. Häberle, A. Burlina, 2016, Orphanet Journal of Rare Diseases.

Preclinical evaluation of liposome-supported peritoneal dialysis for the treatment of hyperammonemic crises.

J. Leroux, B. Thöny, J. Häberle, 2020, Journal of controlled release : official journal of the Controlled Release Society.

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.

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

A. Klimovskaia, J. Leff, H. M. Grisch-Chan, 2019, Journal of inherited metabolic disease.

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

J. Häberle, K. Engel, W. Höhne, 2009, Human mutation.

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

J. Häberle, E. Schmidt, H. Koch, 2003, Molecular genetics and metabolism.

Hyperammonemias and related disorders

V. Rubio, J. Häberle, 2014 .

Glutamine synthetase is essential for proliferation of fetal skin fibroblasts.

A. Toutain, F. Schliess, D. Häussinger, 2008, Archives of biochemistry and biophysics.

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

D. Häussinger, F. Chaudhry, B. Görg, 2015, Journal of Inherited Metabolic Disease.

New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review

B. Lämmle, J. Häberle, H. Jürgens, 1999, European Journal of Pediatrics.

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.

Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.

Georgios Makris, J. Häberle, G. Lipshutz, 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

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

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

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

Misleading diagnosis of partial N‐acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis

L. Gortner, J. Kreuder, J. Häberle, 2005, Acta paediatrica.

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.

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

Robert W. Taylor, A. Munnich, H. Prokisch, 2015, Human molecular genetics.

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

Gheyath K Nasrallah, H. Blom, H. Zayed, 2018, Human mutation.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

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

J. Häberle, A. Laemmle, T. Stricker, 2016, JIMD reports.

Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects

J. Häberle, 2014, Journal of Pediatric Biochemistry.

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

M. Baumgartner, M. Gautschi, J. Häberle, 2016, PloS one.

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

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

T. Suormala, D. Perrett, J. Häberle, 2007, Journal of Inherited Metabolic Disease.

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

H. M. Grisch-Chan, B. Thöny, R. Fingerhut, 2017, Clinica chimica acta; international journal of clinical chemistry.

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

A. Noor, P. Shannon, D. Chitayat, 2020, Clinical genetics.

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations

J. Häberle, M. Linnebank, H. Koch, 2009, Journal of Human Genetics.

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

J. Häberle, B. Wermuth, C. Vianey‐Saban, 2005, Biochimica et biophysica acta.

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

A. Mégarbané, B. Andresen, J. Sass, 2008, Molecular genetics and metabolism.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

CT-guided intraarticular corticosteroid injection into the sacroiliac joints in patients with spondyloarthropathy: indication and follow-up with contrast-enhanced MRI.

B. Hamm, M. Taupitz, K. Wolf, 1996, Journal of computer assisted tomography.

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

A. Erez, P. Gissen, J. Häberle, 2019, Journal of inherited metabolic disease.

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.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Q. Waisfisz, P. Heutink, M. Knaap, 2013, Brain : a journal of neurology.

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

M. Baumgartner, H. Mandel, E. Martins, 2014, 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.

Primary Hyperammonaemia: Current Diagnostic and Therapeutic Strategies

J. Häberle, 2020, Journal of mother and child.

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

S. Cederbaum, K. Burke, P. Martini, 2019, Proceedings of the National Academy of Sciences.

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

M. Landolt, J. Häberle, M. Huemer, 2018, Journal of Inherited Metabolic Disease.

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

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

V. Rubio, N. Boddaert, J. Häberle, 2012, Orphanet Journal of Rare Diseases.

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

J. Häberle, 2012, Expert review of endocrinology & metabolism.

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

J. Häberle, 2011, Therapeutics and clinical risk management.

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

J. Häberle, D. Cheillan, B. Wermuth, 2005, The Journal of pediatrics.

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

Gheyath K Nasrallah, H. Blom, T. Ben-Omran, 2019, Journal of inherited metabolic disease.

Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines.

J. Häberle, M. Huemer, 2015, JIMD reports.

The First Iranian Case of N-acetyl-glutamate Synthase (NAGS) Deficiency Treated with N-carbamylglutamate

J. Häberle, F. Hadipour, Z. Hadipour, 2016 .

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.

Mutation analysis in patients with N‐acetylglutamate synthase deficiency

B. Plecko, J. Häberle, E. Schmidt, 2003, 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.

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

Nicola Longo, N. Longo, N. Ah Mew, 2018, Orphanet Journal of Rare Diseases.

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.

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

J. Häberle, N. Arslan, Y. Ozturk, 2018, Journal of clinical pharmacy and therapeutics.

Orphan drugs in development for urea cycle disorders: current perspectives

J. Häberle, 2014 .

Abstracts from the Conference Clinical and biochemical aspects of primary and secondary hyperammonemic disorders.

J. Häberle, 2022, Folia neuropathologica.

Genetic approach to prenatal diagnosis in urea cycle defects

J. Häberle, H. Koch, H. Koch, 2004, Prenatal diagnosis.

Genetic basis of hyperlysinemia

M. Baumgartner, S. Denis, H. te Brinke, 2013, Orphanet Journal of Rare Diseases.

Urea cycle disorders—update

F. Endo, H. Mitsubuchi, J. Häberle, 2019, Journal of Human Genetics.

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.

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

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

S. Kölker, R. Posset, G. Hoffmann, 2017, Orphanet Journal of Rare Diseases.

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

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

B. Bénichou, G. González-Aseguinolaza, J. Häberle, 2022, International journal of molecular sciences.

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

S. Stockler-Ipsiroglu, J. Häberle, K. Engel, 2010, Molecular genetics and metabolism.

Neonatal screening for citrullinaemia

Iris Marquardt, U. Steuerwald, J. Häberle, 2003, European Journal of Pediatrics.

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

K. Murayama, J. Häberle, M. Kasahara, 2021, Journal of inherited metabolic disease.

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.

V. Rubio, J. Häberle, J. Gallego, 2015, Journal of genetics and genomics = Yi chuan xue bao.

Disorders of Ammonia Detoxification

J. Häberle, V. Rubio, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe).

J. Häberle, D. Karall, M. Rauchenzauner, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

J. A. Arranz, R. Artuch, P. Briones, 2010, Journal of child neurology.

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.

Disorders of Glutamine, Serine and Asparagine Metabolism

O. Dulac, J. Jaeken, J. Häberle, 2016 .

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders.

U. Amstutz, R. Jaggi, C. Largiadèr, 2011, Clinical chemistry.

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

M. Robinson, Helen Lindsay, Joao Matos, 2018, Nature Medicine.

Determination of CFTR densities in erythrocyte plasma membranes using recognition imaging

T. Lange, H. Schillers, H. Oberleithner, 2008, Nanotechnology.

Physiological Concept for a Blood Based CFTR Test

T. Lange, L. Kiesel, H. Schillers, 2006, Cellular Physiology and Biochemistry.

Molecular characterization of CPS1 deletions by array CGH.

H. Zhan, J. Häberle, L. Wong, 2011, Molecular genetics and metabolism.

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

K. Murayama, J. Häberle, Yoriko Watanabe, 2022, Journal of inherited metabolic disease.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

Mutation analysis of urea cycle disorders

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

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

J. Häberle, V. Klaus, K. Engel, 2012, Journal of Inherited Metabolic Disease.

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

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

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene

H. Willenbring, J. Häberle, W. Kleijer, 2002, Human Genetics.

Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes

B. Rosen, M. Firth, S. Strom, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

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

M. Baumgartner, J. Sass, J. Häberle, 2014, European Journal of Pediatrics.

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

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

Studying patients with inflammatory back pain and arthritis of the lower limbs clinically and by magnetic resonance imaging: many, but not all patients with sacroiliitis have spondyloarthropathy.

J. Häberle, J. Braun, J. Brandt, 1999, Rheumatology.

In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels

D. Weissman, M. Stoffel, A. Moor, 2021, Nature Biotechnology.

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

J. Häberle, G. Karthikeyan, S. Jagadeesh, 2013, Indian Pediatrics.

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

Gheyath K Nasrallah, H. Blom, Muthanna Samara, 2019, Journal of inherited metabolic disease.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

C. Largiadèr, K. Tsiakas, J. Häberle, 2008, Molecular genetics and metabolism.

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.

Investigation of citrullinemia type I variants by in vitro expression studies

K. Gempel, T. Vogl, J. Häberle, 2008, Human mutation.

Mutation analysis of Indian patients with urea cycle defects

M. Kabra, J. Häberle, N. Gupta, 2012, Indian Pediatrics.

Adult onset Type II Citrullinemia - A Great Masquerader.

V. Goyal, M. Srivastava, V. Vishnu, 2019, QJM : monthly journal of the Association of Physicians.

Two Novel Mutations in the Argininosuccinate Lyase Gene in Iranian Patients and Literature Review

J. Zschocke, J. Häberle, F. Sayarifard, 2017 .

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

J. Häberle, Nina A. Zeltner, Jana Matic, 2019, JIMD reports.

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

C. Harding, H. M. Grisch-Chan, B. Thöny, 2017, Molecular therapy. Nucleic acids.

Glycogen storage disease type VI: clinical course and molecular background

J. Häberle, P. Bode, D. Rymen, 2019, European Journal of Pediatrics.

Carbamoyl phosphate synthetase 1 deficiency: First report of this rare metabolic disorder in Kingdom of Bahrain with novel mutation

J. Häberle, H. Naser, Z. Alsahlawi, 2018 .

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

J. Häberle, Liyan Hu, R. Kretz, 2012, Molecular genetics and metabolism.

Diagnosis and treatment of urea cycle disorders

J. Häberle, 2011 .

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset

E. Christensen, J. Häberle, E. Schmidt, 2003, Human mutation.

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts

T. Marquardt, J. Häberle, M. Linnebank, 2001, European Journal of Pediatrics.

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.

V. Rubio, J. Häberle, Liyan Hu, 2014, Molecular genetics and metabolism.

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.

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

J. Häberle, M. Vilaseca, R. Parini, 2010, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis

A. Pyle, Georgios Makris, J. Häberle, 2021, The Yale journal of biology and medicine.

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

J. Häberle, H. Koch, 2003, Human Mutation.

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

A. Schulze, J. Häberle, H. D. de Baulny, 2011, Molecular genetics and metabolism.

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

O. Unal, S. Bulbul, J. Häberle, 2017, Clinical biochemistry.

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.

Unrecognized Citrullinemia Mimicking Encephalitis in a 14-Year-Old Boy: Unexpected Result Through the Use of a Standardized Lumbar Puncture Protocol

K. Rostásy, J. Häberle, D. Karall, 2012, Neuropediatrics.

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

H. M. Grisch-Chan, B. Thöny, H. Lee, 2019, Human gene therapy.

Nested polymerase chain reaction strategy simultaneously targeting DNA sequences of multiple bacterial species in inflammatory joint diseases. II. Examination of sacroiliac and knee joint biopsies of patients with spondyloarthropathies and other arthritides.

S. Ehlers, J. Häberle, J. Braun, 1997, The Journal of rheumatology.

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

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder

S. Wortmann, B. Latal, J. Häberle, 2020, Neuropediatrics.

P 233. Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder

S. Wortmann, B. Latal, J. Häberle, 2018, Neuropediatrics.

Glutamine Supplementation in Glutamine Synthetase Deficiency

J. Häberle, 2015 .

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

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

Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

H. Okajima, J. Häberle, Y. Inomata, 2021, Journal of inherited metabolic disease.

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

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

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

J. Häberle, 2011, Clinical Biochemistry.

Editorial

B. Thöny, J. Häberle, 2019, Journal of inherited metabolic disease.

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia

J. Häberle, W. Kleijer, M. L. T. van der Sterre, 2006, Prenatal diagnosis.

[Thrombocytic alpha-delta-storage-pool-disease: shortening of bleeding time after infusion of 1-desamino-8-D-arginine vasopressin].

J. Häberle, H. Jürgens, U. Nowak‐Göttl, 1999, Klinische Padiatrie.

Detection of focal liver lesions: CT of the hepatobiliary system with gadoxetic acid disodium, or Gd-EOB-DTPA.

K J Wolf, S. Schmitz, K. Wolf, 1997, Radiology.

childhood TTP Von Willebrand factor cleaving protease and ADAMTS13 mutations in

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2013 .

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

E. Agolini, J. Häberle, D. Martinelli, 2020, European Journal of Human Genetics.

Sitosterolemia—10 years observation in two sisters

J. Häberle, O. Speer, C. Bürer, 2019, JIMD reports.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

K. Rostásy, J. Häberle, D. Karall, 2008, Journal of Inherited Metabolic Disease.

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.

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

R. O'Gorman, F. Chaudhry, T. Ben-Omran, 2012, Orphanet Journal of Rare Diseases.

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

P. Vermathen, J. Häberle, H. Henry, 2019, Journal of inherited metabolic disease.

Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

A. Gropman, J. Häberle, M. Whitehead, 2016 .

Carbonic Anhydrase VA Deficiency

C. Karnebeek, J. Häberle, 2015 .

Hyperammonämie: Ursachen, Diagnostik, Therapie

J. Häberle, H. Koch, 2004, Deutsche medizinische Wochenschrift.

Late onset ornithine transcarbamylase deficiency in a 61 year old male

D. Cassiman, J. Häberle, T. Malfait, 2015 .