Björn Fischer Selected Research

recessive Cutis laxa

11/2013	Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
9/2009	Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.
6/2009	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

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Björn Fischer Research Topics

Disease

3	recessive Cutis laxa 11/2013 - 06/2009
1	Nocturnal Enuresis (Bedwetting) 12/2021
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2021
1	Atrioventricular Block 01/2021
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 01/2021
1	Intellectual Disability (Idiocy) 02/2014
1	Type IIB Autosomal Recessive Cutis Laxa 11/2013
1	Muscle Hypotonia (Hypotonia) 11/2013
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2013
1	Sepsis (Septicemia) 08/2013
1	HEM dysplasia 07/2010
1	Cutis Laxa 09/2009
1	Congenital Disorders of Glycosylation 09/2009

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 02/2014 - 07/2010
2	Oxidoreductases (Dehydrogenase)IBA 11/2013 - 07/2010
1	OligopeptidesIBA 12/2021
1	Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric 12/2021
1	DesminIBA 01/2021
1	GPI-Linked ProteinsIBA 02/2014
1	delta-1-pyrroline-5-carboxylateIBA 11/2013
1	Proline (L-Proline)FDA Link 11/2013
1	CholesterolIBA 07/2010
1	SterolsIBA 07/2010
1	Transferrin (beta 2 Transferrin)IBA 09/2009
1	Polysaccharides (Glycans)IBA 09/2009
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 09/2009
1	Apolipoprotein C-IIIIBA 09/2009
1	Proton-Translocating ATPases (ATPase, H+)IBA 06/2009

Therapy/Procedure

1	Critical Care (Surgical Intensive Care) 08/2013