Johannes Häberle Selected Research

Citrullinemia

11/2021	Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan.
1/2021	Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
8/2017	Identification of three novel mutations in fourteen patients with citrullinemia type 1.
1/2017	Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
10/2016	Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
4/2012	Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
3/2009	Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
10/2008	Investigation of citrullinemia type I variants by in vitro expression studies.
3/2006	Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
5/2004	Genetic approach to prenatal diagnosis in urea cycle defects.

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Johannes Häberle Research Topics

Disease

37	Hyperammonemia 01/2022 - 06/2003
32	Inborn Urea Cycle Disorders 12/2021 - 10/2002
14	Ornithine Carbamoyltransferase Deficiency Disease 01/2022 - 06/2003
12	Argininosuccinic Aciduria 01/2021 - 10/2002
11	Citrullinemia 11/2021 - 11/2003
7	Hyperargininemia 01/2021 - 05/2004
5	Coma (Comas) 12/2021 - 08/2013
4	Phenylketonurias (Phenylketonuria) 01/2019 - 10/2015
4	Brain Diseases (Brain Disorder) 01/2016 - 04/2011
3	Brain Edema (Cerebral Edema) 12/2021 - 03/2015
3	Ataxia (Dyssynergia) 01/2021 - 01/2016
3	Intellectual Disability (Idiocy) 11/2019 - 05/2015
3	Inborn Genetic Diseases (Disease, Hereditary) 11/2019 - 03/2015
3	Homocystinuria 01/2019 - 01/2019
2	Adult-onset citrullinemia type 2 01/2022 - 03/2015
2	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 10/2016
2	Metabolic Diseases (Metabolic Disease) 11/2021 - 01/2017
2	Seizures (Absence Seizure) 12/2020 - 04/2011
2	Vomiting 01/2020 - 01/2013
2	Liver Diseases (Liver Disease) 11/2019 - 10/2018
2	Acidosis 12/2018 - 10/2016
2	Acute Liver Failure (Fulminant Hepatic Failure) 01/2018 - 04/2011
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2015
2	Sleepiness 01/2017 - 01/2013
2	Propionic Acidemia 11/2015 - 07/2014
2	Perinatal Death 05/2015 - 11/2005
1	Reinfection 01/2022
1	Neutropenia 01/2022
1	Neonatal-onset citrullinemia type 2 01/2022
1	Abscess 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Anemia 01/2022
1	Disease Progression 01/2022
1	Glycogen Storage Disease IB 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2022
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	Infections 01/2021
1	Rare Diseases (Rare Disease) 10/2020
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 03/2020

Drug/Important Bio-Agent (IBA)

24	EnzymesIBA 01/2022 - 03/2006
20	Urea (Carbamide)FDA LinkGeneric 11/2021 - 07/2008
18	AmmoniaIBA 12/2021 - 03/2010
14	Ligases (Synthetase)IBA 12/2021 - 05/2004
9	CitrullineIBA 11/2019 - 06/2003
8	N-acetyl glutamate synthetase deficiencyIBA 12/2021 - 06/2003
8	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 11/2021 - 12/2014
7	Argininosuccinate LyaseIBA 11/2019 - 10/2002
7	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2019 - 06/2003
7	Arginine (L-Arginine)FDA Link 11/2019 - 03/2006
7	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 08/2017 - 11/2003
6	Pharmaceutical PreparationsIBA 01/2022 - 01/2011
6	ArginaseIBA 11/2021 - 01/2016
6	Glutamine (L-Glutamine)FDA Link 12/2020 - 05/2011
5	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 10/2002
3	Transaminases (Aminotransferases)IBA 01/2022 - 01/2016
3	N-carbamylglutamateIBA 12/2021 - 04/2017
3	NitrogenIBA 01/2021 - 10/2016
3	Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA 12/2020 - 11/2005
3	Ammonium CompoundsIBA 07/2018 - 01/2016
3	Aspartic Acid (Aspartate)FDA Link 10/2016 - 11/2003
3	Proteins (Proteins, Gene)FDA Link 01/2016 - 01/2014
3	Glutamic Acid (Glutamate)FDA Link 03/2015 - 08/2005
2	RNA (Ribonucleic Acid)IBA 01/2022 - 07/2008
2	N-acetylglutamic acidIBA 12/2021 - 01/2011
2	Indicators and Reagents (Reagents)IBA 01/2021 - 01/2017
2	Biomarkers (Surrogate Marker)IBA 11/2019 - 08/2013
2	glycerol phenylbutyrateIBA 11/2019 - 01/2017
2	CreatineIBA 11/2019 - 09/2007
2	Orotic AcidIBA 11/2019 - 01/2013
2	Messenger RNA (mRNA)IBA 10/2019 - 07/2008
2	HomocysteineIBA 01/2019 - 01/2016
2	Methionine (L-Methionine)FDA Link 01/2019 - 01/2016
2	CystathionineIBA 01/2019 - 01/2019
2	ChloridesIBA 12/2018 - 01/2006
2	Bicarbonates (Hydrogen Carbonate)IBA 12/2018 - 10/2016
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 10/2018 - 06/2017
2	citrinIBA 10/2018 - 03/2015
2	LyasesIBA 01/2016 - 11/2015
2	Nitric Oxide Synthase (NO Synthase)IBA 01/2016 - 03/2006
2	AntiportersIBA 03/2015 - 05/2012
2	OrnithineIBA 09/2012 - 05/2012
2	carglumic acid FDA Link 05/2012 - 01/2011
2	Amino Acids FDA Link 04/2012 - 03/2010
1	Biotin (Vitamin H)FDA Link 01/2022
1	empagliflozinIBA 01/2022
1	Aquaporins (Water Channels)IBA 01/2022
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022
1	Thiamin Pyrophosphokinase (Thiamine Pyrophosphokinase)IBA 01/2021
1	Thiamine (Aneurin)FDA Link 01/2021
1	MagnesiumIBA 01/2021
1	Leucine (L-Leucine)FDA Link 01/2021
1	Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA 03/2020

Therapy/Procedure

10	Therapeutics 01/2022 - 01/2017
4	Liver Transplantation 01/2022 - 01/2021
2	Emergency Treatment 01/2017 - 04/2011
1	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 01/2022
1	Complementary Therapies (Alternative Medicine) 12/2021
1	Renal Dialysis (Hemodialysis) 01/2021