Robin Lachmann Selected Research

sapropterin (tetrahydrobiopterin)

6/2011

Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria.

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Robin Lachmann Research Topics

Disease

4	Fabry Disease (Fabry's Disease) 01/2021 - 01/2013
2	Methylmalonic acidemia 01/2022 - 11/2015
2	Ornithine Carbamoyltransferase Deficiency Disease 05/2018 - 11/2015
1	Splenomegaly 01/2022
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2022
1	Glycogen Storage Disease IB 12/2020
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2020
1	Pain (Aches) 09/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2019
1	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 09/2019
1	Hyperammonemia 05/2018
1	Brain Diseases (Brain Disorder) 05/2018
1	Inborn Urea Cycle Disorders 05/2018
1	Craniocerebral Trauma (Head Injury) 05/2018
1	Liver Diseases (Liver Disease) 05/2018
1	Epilepsy (Aura) 05/2018
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 01/2018
1	Disease Progression 01/2018
1	Mucolipidoses (Sialidosis) 01/2018
1	Argininosuccinic Aciduria 01/2017
1	Infarction (Infarctions) 01/2017
1	Atrophy 01/2017
1	Hypermethioninemia 08/2015
1	Respiratory Tract Diseases (Respiratory Tract Disease) 10/2013
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2013
1	Muscular Dystrophies (Muscular Dystrophy) 10/2013
1	Maple Syrup Urine Disease 06/2011
1	Movement Disorders (Movement Disorder) 06/2011
1	Phenylketonurias (Phenylketonuria) 06/2011
1	Neurotoxicity Syndromes (Toxic Encephalopathy) 06/2011

Drug/Important Bio-Agent (IBA)

2	AmmoniaIBA 05/2018 - 01/2017
2	EnzymesIBA 01/2018 - 06/2011
2	GalactosidasesIBA 01/2017 - 06/2015
1	VitaminsIBA 01/2022
1	Carbon MonoxideIBA 01/2022
1	olipudase alfaIBA 01/2022
1	Glucose-6-PhosphateIBA 12/2020
1	burosumabIBA 09/2019
1	Monoclonal AntibodiesIBA 09/2019
1	Phosphates (Orthophosphate)IBA 09/2019
1	Valproic Acid (Depakote)FDA LinkGeneric 05/2018
1	Uridine Diphosphate (UDP)IBA 01/2018
1	GadoliniumIBA 01/2018
1	migalastatIBA 01/2017
1	CreatineIBA 01/2017
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2015
1	Ligases (Synthetase)IBA 11/2015
1	LyasesIBA 11/2015
1	Methionine (L-Methionine)FDA Link 08/2015
1	CystathionineIBA 08/2015
1	agalsidase beta FDA Link 01/2013
1	AcidsIBA 06/2011
1	Isoleucine (L-Isoleucine)FDA Link 06/2011
1	Leucine (L-Leucine)FDA Link 06/2011
1	Branched-Chain Amino AcidsIBA 06/2011
1	Amino Acids FDA Link 06/2011
1	Oxidoreductases (Dehydrogenase)IBA 06/2011
1	sapropterin (tetrahydrobiopterin)FDA Link 06/2011
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 06/2011
1	Valine (L-Valine)FDA Link 06/2011

Therapy/Procedure

5	Therapeutics 01/2021 - 06/2011
3	Enzyme Replacement Therapy 01/2022 - 10/2013
1	Activities of Daily Living (ADL) 10/2013