Frank Rutsch Selected Research

Crisponi syndrome

1/2022	CRLF1 and CLCF1 in Development, Health and Disease.
1/2020	Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.

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Frank Rutsch Research Topics

Disease

17	Arterial calcification of infancy 01/2022 - 01/2005
9	Phenylketonurias (Phenylketonuria) 01/2022 - 01/2014
5	Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome) 01/2022 - 01/2012
3	Inflammation (Inflammations) 01/2022 - 03/2005
3	Rickets (Rachitis) 11/2021 - 12/2011
2	Crisponi syndrome 01/2022 - 01/2020
2	Achondroplasia 12/2021 - 01/2020
2	Cognitive Dysfunction 01/2021 - 05/2010
2	Vascular Calcification 01/2020 - 01/2008
2	Chronic Renal Insufficiency 01/2020 - 01/2016
2	Keutel syndrome 01/2017 - 01/2016
2	Melanoma (Melanoma, Malignant) 01/2017 - 01/2016
2	Anemia 07/2015 - 05/2010
2	Infections 11/2012 - 12/2011
2	Hypophosphatemia 12/2011 - 12/2008
1	Hypophosphatasia 01/2022
1	Hypophosphatemic Rickets 01/2022
1	Gaucher Disease (Gaucher's Disease) 01/2021
1	Osteoarthritis 01/2020
1	Hyperplasia 10/2018
1	Neointima 10/2018
1	Intellectual Disability (Idiocy) 01/2018
1	Sialorrhea 12/2017
1	Acidosis 10/2017
1	Ketosis 10/2017
1	Succinyl-CoA:3-oxoacid CoA transferase deficiency 10/2017
1	Progeria (Hutchinson Gilford Syndrome) 01/2017
1	HIV Infections (HIV Infection) 01/2017
1	Singleton Merten syndrome 01/2017
1	Type Iiic Gaucher Disease 01/2017
1	Familial Hyperphosphatemic Tumoral Calcinosis 01/2017
1	Virus Diseases (Viral Diseases) 01/2017
1	Diabetes Mellitus 01/2016
1	Chronic Disease (Chronic Diseases) 01/2016
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2016
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2015
1	Periventricular Nodular Heterotopia 10/2015
1	Nephrotic Syndrome (Syndrome, Nephrotic) 07/2015
1	Proteinuria 07/2015
1	Thrombotic Microangiopathies 07/2015
1	Inborn Urea Cycle Disorders 01/2014
1	Atherosclerosis 11/2011

Drug/Important Bio-Agent (IBA)

10	diphosphoric acid (pyrophosphoric acid)IBA 01/2022 - 03/2005
9	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 01/2015
6	Diphosphonates (Bisphosphonates)IBA 11/2021 - 07/2005
5	Phosphates (Orthophosphate)IBA 01/2021 - 12/2008
5	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021 - 01/2014
5	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 01/2014
4	Proteins (Proteins, Gene)FDA Link 10/2018 - 02/2011
3	CytokinesIBA 01/2022 - 11/2010
3	Adenosine Triphosphate (ATP)IBA 01/2018 - 01/2012
3	ectonucleotide pyrophosphatase phosphodiesterase 1IBA 01/2018 - 01/2005
2	Cytokine Receptors (Cytokine Receptor)IBA 01/2022 - 01/2020
2	vosoritideIBA 12/2021 - 01/2020
2	Pharmaceutical PreparationsIBA 05/2020 - 01/2016
2	Etidronic Acid (HEDP)FDA LinkGeneric 10/2018 - 12/2011
2	EnzymesIBA 01/2018 - 12/2011
2	Interferon Type IIBA 01/2016 - 12/2011
2	Antihypertensive Agents (Antihypertensives)IBA 07/2015 - 04/2006
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2015 - 05/2010
2	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 07/2015 - 07/2005
2	Durapatite (Hydroxylapatite)IBA 12/2011 - 01/2008
2	OsteopontinIBA 11/2011 - 02/2011
1	InterleukinsIBA 01/2022
1	cardiotrophin-like cytokineIBA 01/2022
1	Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA 12/2021
1	C-Type Natriuretic Peptide (Peptide, C-Type Natriuretic)IBA 12/2021
1	purineIBA 01/2021
1	Membrane Transport Proteins (Biological Pump)IBA 01/2021
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2020
1	calcium phosphateIBA 01/2020
1	pegvaliaseIBA 09/2019
1	Adenosine Monophosphate (AMP)IBA 10/2018
1	Glucose (Dextrose)FDA LinkGeneric 10/2017
1	ElectrolytesIBA 10/2017
1	Sodium Bicarbonate (Baking Soda)FDA LinkGeneric 10/2017
1	TransferasesIBA 10/2017
1	Coenzyme A (CoA)IBA 10/2017
1	succinyl-coenzyme A (succinyl-CoA)IBA 10/2017
1	KetonesIBA 10/2017
1	Lactic Acid (Lactate)FDA LinkGeneric 10/2017
1	Amino Acids FDA Link 10/2017
1	InterferonsIBA 01/2017
1	Warfarin (Coumadin)FDA LinkGeneric 01/2016
1	GlucocorticoidsIBA 01/2016
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2016
1	Double-Stranded RNA (RNA, Double Stranded)IBA 01/2016
1	ManganeseIBA 12/2015
1	Transferrin (beta 2 Transferrin)IBA 12/2015
1	FilaminsIBA 10/2015
1	HomocysteineIBA 07/2015
1	Blood Proteins (Serum Proteins)IBA 07/2015
1	AmmoniaIBA 01/2014
1	Nonsense Codon (Nonsense Mutation)IBA 11/2012
1	Adenosine Diphosphate (ADP)IBA 08/2012
1	ChemokinesIBA 12/2011

Therapy/Procedure

8	Therapeutics 01/2021 - 12/2008
1	Ligation 10/2018
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017