Johannes Häberle Selected Research

Emergency Treatment

1/2017	Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.
4/2011	Transient fulminant liver failure as an initial presentation in citrullinemia type I.

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Johannes Häberle Research Topics

Disease

38	Hyperammonemia 01/2022 - 06/2003
35	Inborn Urea Cycle Disorders 05/2024 - 10/2002
15	Ornithine Carbamoyltransferase Deficiency Disease 12/2022 - 06/2003
12	Citrullinemia 11/2022 - 11/2003
12	Argininosuccinic Aciduria 01/2021 - 10/2002
7	Hyperargininemia 01/2021 - 05/2004
5	Adult-onset citrullinemia type 2 03/2024 - 03/2015
5	Phenylketonurias (Phenylketonuria) 12/2022 - 10/2015
5	Coma (Comas) 12/2021 - 08/2013
4	Brain Diseases (Brain Disorder) 01/2016 - 04/2011
3	Liver Diseases (Liver Disease) 01/2022 - 10/2018
3	Acute Liver Failure (Fulminant Hepatic Failure) 01/2022 - 04/2011
3	Propionic Acidemia 01/2022 - 07/2014
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	Neonatal-onset citrullinemia type 2 09/2023 - 01/2022
2	Body Weight (Weight, Body) 11/2022 - 01/2017
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	Acidosis 12/2018 - 10/2016
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 11/2015
2	Sleepiness 01/2017 - 01/2013
2	Perinatal Death 05/2015 - 11/2005
1	Hepatocellular Carcinoma (Hepatoma) 01/2024
1	Neoplasms (Cancer) 01/2023
1	Metabolic Brain Diseases (Encephalopathy, Metabolic) 11/2022
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2022
1	Abscess 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Anemia 01/2022
1	Glycogen Storage Disease IB 01/2022
1	Disease Progression 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Neutropenia 01/2022

Drug/Important Bio-Agent (IBA)

27	EnzymesIBA 05/2024 - 03/2006
22	AmmoniaIBA 01/2024 - 03/2010
22	Urea (Carbamide)FDA LinkGeneric 01/2024 - 07/2008
15	Ligases (Synthetase)IBA 09/2023 - 05/2004
11	CitrullineIBA 09/2023 - 06/2003
9	N-acetyl glutamate synthetase deficiencyIBA 05/2024 - 06/2003
9	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 09/2023 - 12/2014
8	Arginine (L-Arginine)FDA Link 09/2023 - 03/2006
8	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 12/2022 - 06/2003
8	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 11/2022 - 11/2003
7	Argininosuccinate LyaseIBA 11/2019 - 10/2002
6	ArginaseIBA 11/2021 - 01/2016
6	Glutamine (L-Glutamine)FDA Link 12/2020 - 05/2011
5	Proteins (Proteins, Gene)FDA Link 08/2022 - 01/2014
5	DNA (Deoxyribonucleic Acid)IBA 01/2019 - 10/2002
4	citrinIBA 03/2024 - 03/2015
4	NitrogenIBA 11/2022 - 10/2016
3	Amino Acids FDA Link 09/2023 - 03/2010
3	CystathionineIBA 12/2022 - 01/2019
3	Transaminases (Aminotransferases)IBA 01/2022 - 01/2016
3	N-carbamylglutamateIBA 12/2021 - 04/2017
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	Glutamic Acid (Glutamate)FDA Link 03/2015 - 08/2005
2	Carnitine (L-Carnitine)FDA LinkGeneric 09/2023 - 12/2018
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	glycerol phenylbutyrateIBA 11/2019 - 01/2017
2	Orotic AcidIBA 11/2019 - 01/2013
2	Biomarkers (Surrogate Marker)IBA 11/2019 - 08/2013
2	CreatineIBA 11/2019 - 09/2007
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	Bicarbonates (Hydrogen Carbonate)IBA 12/2018 - 10/2016
2	ChloridesIBA 12/2018 - 01/2006
2	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 10/2018 - 06/2017
2	Nitric Oxide Synthase (NO Synthase)IBA 01/2016 - 03/2006
2	LyasesIBA 01/2016 - 11/2015
2	AntiportersIBA 03/2015 - 05/2012
2	OrnithineIBA 09/2012 - 05/2012
2	carglumic acid FDA Link 05/2012 - 01/2011
1	SugarsIBA 03/2024
1	Glycerol (Glycerine)FDA LinkGeneric 03/2024
1	SolutionsIBA 03/2024
1	IsotopesIBA 01/2024
1	serum P-component (CIt)IBA 09/2023
1	Tyrosine (L-Tyrosine)FDA Link 09/2023
1	glutarylcarnitineIBA 09/2023
1	CarbohydratesIBA 08/2022
1	Biotin (Vitamin H)FDA Link 01/2022
1	hexosaminidase CIBA 01/2022
1	empagliflozinIBA 01/2022
1	Aquaporins (Water Channels)IBA 01/2022
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/2022

Therapy/Procedure

11	Therapeutics 01/2022 - 01/2017
4	Liver Transplantation 01/2022 - 01/2021
2	Emergency Treatment 01/2017 - 04/2011