Georg F Hoffmann Selected Research

Medium chain acyl CoA dehydrogenase deficiency

6/2022	Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
9/2018	Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
6/2011	Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
10/2010	Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
10/2002	A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

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Georg F Hoffmann Research Topics

Disease

19	Phenylketonurias (Phenylketonuria) 10/2021 - 03/2002
11	Brain Diseases (Brain Disorder) 01/2022 - 01/2003
8	Metabolic Diseases (Metabolic Disease) 06/2021 - 07/2002
8	Dystonia (Limb Dystonia) 08/2017 - 07/2002
7	Inborn Urea Cycle Disorders 01/2020 - 09/2005
7	Seizures (Absence Seizure) 01/2019 - 02/2003
7	Propionic Acidemia 01/2019 - 10/2004
7	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2017 - 11/2002
6	Methylmalonic acidemia 01/2019 - 04/2002
6	Intellectual Disability (Idiocy) 01/2019 - 12/2011
5	Medium chain acyl CoA dehydrogenase deficiency 06/2022 - 10/2002
5	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021 - 11/2006
5	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 06/2021 - 04/2017
5	Mevalonate Kinase Deficiency 01/2021 - 02/2003
5	Atrophy 01/2021 - 05/2002
5	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2007
4	Hypoglycemia (Reactive Hypoglycemia) 06/2022 - 10/2002
4	Epilepsy (Aura) 01/2022 - 04/2005
4	Cystic Fibrosis (Mucoviscidosis) 01/2022 - 10/2010
4	Neurodevelopmental Disorders 01/2022 - 03/2016
4	Movement Disorders (Movement Disorder) 01/2021 - 10/2004
4	Aromatic amino acid decarboxylase deficiency 09/2020 - 03/2004
4	B BH4-Deficient Hyperphenylalaninemia 09/2020 - 06/2011
4	Hyperammonemia 01/2020 - 05/2011
4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 03/2002
4	Acute Liver Failure (Fulminant Hepatic Failure) 01/2019 - 01/2009
4	Congenital Disorders of Glycosylation 01/2018 - 11/2010
4	Homocystinuria 04/2017 - 09/2007
3	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 06/2021 - 10/2008
3	Nervous System Diseases (Neurological Disorders) 03/2021 - 04/2005
3	autosomal recessive Segawa syndrome 01/2021 - 01/2003
3	Diabetic Nephropathies (Diabetic Nephropathy) 07/2020 - 11/2015
3	Mitochondrial Diseases (Mitochondrial Disease) 09/2017 - 08/2006
3	Glutaric Acidemia I 01/2017 - 05/2002
3	Neoplasms (Cancer) 04/2016 - 04/2013
3	Cerebellar Ataxia (Dysmetria) 02/2016 - 02/2003
3	Dopa-responsive Dystonia 03/2013 - 10/2007
2	Infections 10/2022 - 01/2016
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 10/2021 - 01/2019
2	Folic Acid Deficiency (Folic Acid Deficiencies) 06/2021 - 09/2007
2	Cognitive Dysfunction 01/2021 - 01/2019
2	Liver Failure 11/2020 - 01/2020
2	Muscular Diseases (Myopathy) 10/2020 - 03/2002
2	6-pyruvoyl-tetrahydropterin synthase deficiency 09/2020 - 03/2008
2	Methylenetetrahydrofolate reductase deficiency 01/2020 - 10/2018
2	Gaucher Disease (Gaucher's Disease) 01/2020 - 09/2017
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2020 - 08/2002
2	Guanidinoacetate methyltransferase deficiency 01/2020 - 02/2003
2	Globoid Cell Leukodystrophy (Krabbe Disease) 10/2019 - 09/2017
2	Neurologic Manifestations (Neurological Manifestations) 01/2019 - 04/2015
2	Anemia 01/2019 - 10/2017
2	Reinfection 01/2019 - 12/2017
2	Tuberous Sclerosis (Bourneville's Disease) 01/2019 - 10/2016
2	Autism Spectrum Disorder 01/2019 - 10/2017
2	Cholestasis 01/2019 - 10/2018
2	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2018 - 06/2005
2	Citrullinemia 10/2018 - 09/2018

Drug/Important Bio-Agent (IBA)

13	EnzymesIBA 01/2020 - 03/2002
11	Neurotransmitter Agents (Neurotransmitter)IBA 11/2021 - 01/2003
11	AcidsIBA 01/2013 - 04/2002
10	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2010
9	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 09/2020 - 04/2003
8	Phenylalanine (L-Phenylalanine)FDA Link 10/2021 - 03/2002
7	Fatty Acids (Saturated Fatty Acids)IBA 06/2022 - 10/2002
6	Levodopa (L Dopa)FDA LinkGeneric 03/2013 - 07/2002
5	CholesterolIBA 01/2021 - 02/2003
4	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2021 - 03/2008
4	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 06/2021 - 09/2007
4	HomocysteineIBA 10/2020 - 03/2010
4	Methylmalonic AcidIBA 10/2020 - 08/2007
4	sapropterin (tetrahydrobiopterin)FDA Link 09/2020 - 03/2008
4	Coenzyme A (CoA)IBA 01/2019 - 10/2010
4	Vitamin D FDA LinkGeneric 10/2017 - 01/2009
4	Dopamine (Intropin)FDA LinkGeneric 08/2017 - 07/2002
4	Serotonin (5 Hydroxytryptamine)IBA 08/2017 - 07/2002
4	Lysine (L-Lysine)FDA Link 01/2017 - 09/2012
3	IronIBA 01/2022 - 10/2017
3	Oxidoreductases (Dehydrogenase)IBA 06/2021 - 04/2005
3	Carnitine (L-Carnitine)FDA LinkGeneric 10/2020 - 11/2002
3	Amino Acids FDA Link 01/2020 - 06/2011
3	GlycoconjugatesIBA 01/2018 - 03/2012
3	DipeptidesIBA 07/2016 - 01/2011
3	Histidine (L-Histidine)FDA Link 07/2016 - 01/2011
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 06/2022 - 10/2002
2	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2021 - 04/2015
2	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2020 - 08/2016
2	Transaminases (Aminotransferases)IBA 11/2020 - 12/2017
2	Systemic carnitine deficiencyIBA 10/2020 - 10/2010
2	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 09/2020 - 03/2013
2	Methylmalonyl-CoA MutaseIBA 01/2019 - 08/2007
2	trans-sodium crocetinate (crocetin)IBA 01/2019 - 10/2016
2	Ammonium CompoundsIBA 01/2019 - 01/2017
2	TransferasesIBA 01/2019 - 10/2018
2	cobamamide (adenosylcobalamin)IBA 01/2019 - 08/2007
2	PropionatesIBA 12/2018 - 08/2006

Therapy/Procedure

15	Therapeutics 01/2021 - 11/2004
3	Liver Transplantation 01/2016 - 09/2005
2	Enzyme Replacement Therapy 01/2020 - 01/2019
2	Emergency Treatment 01/2019 - 01/2014
2	Artificial Respiration (Mechanical Ventilation) 11/2018 - 01/2007