Lars Schlotawa Selected Research

Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

11/2020	A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
5/2020	Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
9/2019	Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.
1/2018	Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
1/2018	Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
1/2017	Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
9/2013	Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.
3/2011	SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
4/2009	Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
1/2008	Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

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Lars Schlotawa Research Topics

Disease

10	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 11/2020 - 01/2008
4	Mucopolysaccharidoses 11/2020 - 01/2018
3	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 11/2020 - 01/2018
2	X-Linked Ichthyosis (Ichthyosis, X Linked) 11/2020 - 01/2018
2	Chondrodysplasia Punctata (Stippled Epiphyses) 11/2020 - 01/2018
2	Neoplasms (Cancer) 01/2008 - 07/2004
2	Ovarian Neoplasms (Ovarian Cancer) 01/2008 - 07/2004
1	Disease Progression 11/2020
1	Hypoglycemia (Reactive Hypoglycemia) 09/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 09/2020
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 09/2020
1	Intracranial Sinus Thrombosis (Sinus Thrombosis) 09/2020
1	Thrombophilia 09/2020
1	Sphingolipidoses (Sphingolipidosis) 05/2020
1	Rare Diseases (Rare Disease) 05/2020
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018
1	Tauopathies 04/2017
1	Metabolic Diseases (Metabolic Disease) 01/2017
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 04/2009
1	Mucolipidoses (Sialidosis) 04/2009
1	Breast Neoplasms (Breast Cancer) 01/2008

Drug/Important Bio-Agent (IBA)

8	SulfatasesIBA 11/2020 - 03/2011
6	EnzymesIBA 11/2020 - 01/2008
4	N-formylglycineIBA 11/2020 - 01/2008
2	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2008 - 07/2004
2	Triptorelin Pamoate (Trelstar)FDA Link 01/2008 - 07/2004
1	Antithrombin ProteinsIBA 09/2020
1	AntithrombinsIBA 09/2020
1	Factor XI (Plasma Thromboplastin Antecedent)IBA 09/2020
1	IsomerasesIBA 09/2020
1	Mannose (D-Mannose)IBA 09/2020
1	Phosphates (Orthophosphate)IBA 09/2020
1	Proteins (Proteins, Gene)FDA Link 09/2020
1	Lysergic Acid Diethylamide (LSD)IBA 09/2019
1	lysosomal proteinsIBA 04/2009
1	mutalipocin IIIBA 04/2009
1	AcetylglucosamineIBA 04/2009
1	Cytotoxins (Cytolysins)IBA 01/2008
1	LHRH Receptors (Gonadotropin-Releasing Hormone Receptor)IBA 01/2008
1	NF-kappa B (NF-kB)IBA 01/2008
1	Protein Tyrosine PhosphatasesIBA 01/2008
1	Growth Factor ReceptorsIBA 01/2008
1	Pharmaceutical PreparationsIBA 01/2008
1	Doxorubicin (Adriamycin)FDA LinkGeneric 01/2008
1	His(5)-Trp(7)-Tyr(8)- LHRHIBA 07/2004
1	cetrorelix (Cetrotide)FDA Link 07/2004

Therapy/Procedure

1	Decompression 09/2020
1	Thrombectomy 09/2020
1	Therapeutics 04/2017