Robin H Lachmann Selected Research

Fibrosis (Cirrhosis)

9/2020	Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
1/2019	Proposed Stages of Myocardial Phenotype Development in Fabry Disease.

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Robin H Lachmann Research Topics

Disease

8	Fabry Disease (Fabry's Disease) 01/2018 - 01/2013
6	Gaucher Disease (Gaucher's Disease) 10/2021 - 04/2003
3	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2017 - 08/2004
3	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2016 - 04/2009
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2021 - 03/2010
2	Fibrosis (Cirrhosis) 09/2020 - 01/2019
2	Niemann-Pick Diseases (Niemann Pick Disease) 09/2020 - 01/2018
2	Phenylketonurias (Phenylketonuria) 01/2019 - 04/2011
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 05/2015 - 05/2013
2	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 12/2014 - 05/2013
1	Glycogen Storage Disease IIIA 01/2022
1	Metabolic Diseases (Metabolic Disease) 01/2022
1	Osteonecrosis (Kienbock's Disease) 10/2021
1	Fatigue 01/2021
1	Hepatomegaly 09/2020
1	Inflammation (Inflammations) 01/2019
1	Epilepsy (Aura) 01/2019
1	Cicatrix (Scar) 01/2019
1	Hypertrophy 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Vacuolar myopathy 01/2018
1	Muscular Diseases (Myopathy) 01/2018
1	Nephrocalcinosis 01/2018
1	Osteoarthritis 01/2018
1	Pain (Aches) 01/2018
1	Hypophosphatemia 01/2018
1	Muscle Weakness 01/2018
1	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 01/2018
1	Colitis 01/2017
1	Granuloma 01/2017
1	Crohn Disease (Crohn's Disease) 01/2017
1	Renal Insufficiency (Renal Failure) 05/2015
1	Stroke (Strokes) 05/2015
1	Cysts 02/2015
1	Chronic Renal Insufficiency 02/2015
1	Inborn Urea Cycle Disorders 01/2014
1	Kidney Diseases (Kidney Disease) 05/2013
1	Amyloidosis 05/2013
1	Aortic Valve Stenosis (Aortic Stenosis) 05/2013
1	Hypertension (High Blood Pressure) 05/2013
1	Cerebrotendinous Xanthomatosis 12/2012
1	Heart Diseases (Heart Disease) 10/2012
1	Propionic Acidemia 05/2012
1	Methylmalonic acidemia 05/2012
1	Glutaric Acidemia I 05/2012
1	Ornithine Carbamoyltransferase Deficiency Disease 05/2012
1	Homocystinuria 05/2012
1	Maternal Death 05/2012
1	Coronary Artery Disease (Coronary Atherosclerosis) 03/2010
1	Injection Site Reaction 03/2010
1	Parkinson Disease (Parkinson's Disease) 07/2009
1	Central Nervous System Diseases (CNS Diseases) 05/2009
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2004

Drug/Important Bio-Agent (IBA)

5	Biomarkers (Surrogate Marker)IBA 01/2019 - 02/2009
5	miglustat (Zavesca)FDA Link 01/2016 - 04/2003
4	LipidsIBA 09/2020 - 08/2004
2	burosumabIBA 01/2021 - 01/2018
2	olipudase alfaIBA 09/2020 - 01/2018
2	SphingolipidsIBA 01/2019 - 12/2014
2	GalactosidasesIBA 05/2015 - 02/2015
2	Proteins (Proteins, Gene)FDA Link 02/2015 - 05/2013
1	Oxygen (Dioxygen)IBA 01/2022
1	Pharmaceutical PreparationsIBA 01/2022
1	EnzymesIBA 09/2020
1	SphingomyelinsIBA 09/2020
1	Lysergic Acid Diethylamide (LSD)IBA 01/2020
1	Monoclonal AntibodiesIBA 01/2018
1	globotriaosyl lysosphingolipidIBA 01/2018
1	polyglucosanIBA 01/2018
1	Fibroblast Growth Factor-23IBA 01/2018
1	AcidsIBA 01/2018
1	Amylases FDA Link 01/2018
1	CalciumIBA 01/2018
1	Parathyroid Hormone (Parathormone)IBA 01/2018
1	Phosphates (Orthophosphate)IBA 01/2018
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2018
1	agalsidase beta FDA Link 05/2015
1	globotriaosylceramide (globotriosylceramide)IBA 05/2015
1	mesoglycanIBA 03/2014
1	AmmoniaIBA 01/2014
1	Amyloid (Amyloid Fibrils)IBA 05/2013
1	Brain Natriuretic Peptide (Natrecor)FDA Link 01/2013
1	CholesterolIBA 12/2012
1	LyasesIBA 05/2012
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 05/2012
1	Phenylalanine (L-Phenylalanine)FDA Link 04/2011
1	LDL CholesterolIBA 03/2010
1	LDL Receptors (LDL Receptor)IBA 03/2010
1	mipomersenIBA 03/2010
1	Glucosylceramidase (Glucocerebrosidase)IBA 07/2009
1	alpha-Glucosidases (Acid Maltase)IBA 10/2004

Therapy/Procedure

7	Enzyme Replacement Therapy 01/2020 - 05/2009
4	Therapeutics 10/2021 - 04/2009
1	Splenectomy 10/2021
1	Protein-Restricted Diet (Diet, Protein Restricted) 04/2011