Marianne Rohrbach Selected Research

Marianne Rohrbach Research Topics

Disease

7	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2020 - 12/2010
5	Osteogenesis Imperfecta (Lobstein Disease) 01/2023 - 08/2012
5	Glycogen Storage Disease Type II (Pompe's Disease) 02/2020 - 12/2010
4	Hearing Loss (Hearing Impairment) 01/2020 - 02/2012
3	Congenital Abnormalities (Deformity) 01/2023 - 01/2015
3	Marfan Syndrome (Marfan's Syndrome) 01/2020 - 12/2010
2	Muscular Diseases (Myopathy) 02/2020 - 02/2012
2	Joint Instability (Joint Laxity) 01/2020 - 02/2012
2	Muscle Hypotonia (Hypotonia) 01/2020 - 02/2012
2	Loeys-Dietz Syndrome 01/2020 - 12/2010
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2018 - 01/2007
2	Disease Progression 02/2017 - 04/2013
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2017 - 11/2014
2	Scoliosis 03/2015 - 02/2012
2	Hypersensitivity (Allergy) 01/2015 - 12/2010
1	Fabry Disease (Fabry's Disease) 01/2024
1	Brain Diseases (Brain Disorder) 10/2020
1	Seizures (Absence Seizure) 10/2020
1	Anemia 10/2020
1	Infantile Epileptic-Dyskinetic Encephalopathy 10/2020
1	Intellectual Disability (Idiocy) 10/2020
1	Status Epilepticus (Complex Partial Status Epilepticus) 10/2020
1	Epilepsy (Aura) 10/2020
1	Aortic Rupture 01/2020
1	Phenylketonurias (Phenylketonuria) 01/2020
1	Cicatrix (Scar) 10/2019
1	Colitis 01/2017
1	Granuloma 01/2017
1	Crohn Disease (Crohn's Disease) 01/2017
1	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016
1	Developmental Bone Diseases (Bone Dysplasia) 01/2016
1	Accidental Injuries 08/2015
1	Niemann-Pick Diseases (Niemann Pick Disease) 06/2015
1	Lactic Acidosis 01/2015
1	Failure to Thrive 01/2015
1	Gastroesophageal Reflux (GERD) 01/2015
1	Cardiomegaly (Heart Hypertrophy) 01/2015
1	Pneumonia (Pneumonitis) 01/2015
1	Aortic Aneurysm (Aneurysm, Aortic) 05/2014
1	Developmental Dysplasia of the Hip 05/2013
1	Rupture 05/2013
1	Gaucher Disease (Gaucher's Disease) 04/2013
1	Osteoporosis 08/2012
1	Bone Fractures (Bone Fracture) 08/2012
1	Arachnodactyly 07/2011
1	Tiglic acidemia 08/2010
1	2-Methylbutyryl-CoA Dehydrogenase Deficiency 08/2010

Drug/Important Bio-Agent (IBA)

3	Biomarkers (Surrogate Marker)IBA 02/2017 - 06/2015
3	EnzymesIBA 01/2016 - 12/2010
2	CollagenIBA 01/2023 - 01/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2023 - 01/2021
2	GlucosidasesIBA 02/2020 - 12/2010
2	pyridinolineIBA 08/2015 - 02/2012
2	AcidsIBA 09/2013 - 12/2010
2	GlycogenIBA 09/2013 - 12/2010
2	human GAA protein (Myozyme)FDA Link 09/2013 - 12/2010
1	MineralsIBA 01/2023
1	Uridine Monophosphate (UMP)IBA 10/2020
1	UridineIBA 10/2020
1	pyrimidineIBA 10/2020
1	Messenger RNA (mRNA)IBA 01/2020
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020
1	beta-cyclodextrin tetradecasulfate (CTDS)IBA 01/2020
1	FKBP22IBA 01/2020
1	Tacrolimus Binding Proteins (FKBP)IBA 01/2020
1	alpha2 Subunit Collagen Type IIBA 01/2020
1	Amino Acids FDA Link 01/2020
1	Proteins (Proteins, Gene)FDA Link 01/2020
1	tenascin XIBA 10/2019
1	HydrolasesIBA 11/2018
1	LipidsIBA 01/2017
1	Complement System Proteins (Complement)IBA 11/2016
1	ProcollagenIBA 01/2016
1	OxysterolsIBA 06/2015
1	glycine cleavage systemIBA 01/2015
1	Thioctic Acid (Lipoic Acid)IBA 01/2015
1	Oxidoreductases (Dehydrogenase)IBA 01/2015
1	CholesterolIBA 11/2014
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 05/2014
1	TetracyclinesIBA 05/2014
1	alpha-Glucosidases (Acid Maltase)IBA 09/2013
1	polycarbonateIBA 05/2013
1	Glucosylceramidase (Glucocerebrosidase)IBA 04/2013
1	ZincIBA 12/2012
1	Procollagen Type IIBA 08/2012
1	Fibrillin-1IBA 07/2011
1	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 06/2011
1	Transforming Growth Factor-beta Type I ReceptorIBA 12/2010
1	Omalizumab (Xolair)FDA Link 12/2010
1	Transforming Growth Factor-beta Type II ReceptorIBA 12/2010
1	anti-IgE antibodiesIBA 12/2010
1	Immunoglobulin E (IgE)IBA 12/2010
1	2-methylacyl-CoA dehydrogenaseIBA 08/2010

Therapy/Procedure

6	Enzyme Replacement Therapy 01/2024 - 01/2007
1	Therapeutics 02/2017
1	Osteotomy 03/2015
1	Hearing Aids (Hearing Aid) 03/2015
1	Orthopedic Procedures 03/2015
1	Anesthesia 01/2015
1	Eyeglasses (Spectacles) 05/2013