Nathalie Guffon Selected Research

Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)

1/2022	Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil.
8/2014	Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
3/2014	Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI.
2/2010	Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
1/2010	Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
8/2008	Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
9/2007	Mutational analysis of 105 mucopolysaccharidosis type VI patients.
4/2006	Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
4/2005	Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

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Nathalie Guffon Research Topics

Disease

9	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2022 - 04/2005
8	Fabry Disease (Fabry's Disease) 01/2017 - 06/2002
7	Mucopolysaccharidosis I (Hurler Syndrome) 12/2019 - 07/2007
6	Mucopolysaccharidoses 01/2022 - 03/2007
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2022 - 11/2003
6	Mucopolysaccharidosis II (Hunter Syndrome) 01/2017 - 03/2008
4	alpha-Mannosidosis 06/2020 - 01/2018
4	Hyperammonemia 09/2016 - 04/2005
3	Neurologic Manifestations (Neurological Manifestations) 06/2020 - 01/2018
3	Disease Progression 01/2017 - 04/2005
3	Inborn Urea Cycle Disorders 09/2016 - 12/2012
2	Niemann-Pick Diseases (Niemann Pick Disease) 02/2022 - 01/2021
2	Pain (Aches) 01/2022 - 01/2006
2	Ketosis 01/2017 - 05/2011
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2017 - 02/2009
2	Propionic Acidemia 03/2016 - 01/2008
2	Methylmalonic acidemia 03/2016 - 01/2008
1	Anaphylaxis (Anaphylactic Shock) 01/2021
1	Exanthema (Rash) 01/2021
1	Urticaria (Hives) 01/2021
1	Hypersensitivity (Allergy) 01/2020
1	Mucopolysaccharidosis VII (Sly Syndrome) 09/2019
1	Respiratory Tract Infections (Respiratory Tract Infection) 09/2019
1	Inguinal Hernia (Direct Inguinal Hernia) 09/2019
1	Coxa Valga 09/2019
1	Headache (Headaches) 01/2019
1	Homocystinuria 01/2019
1	Interstitial Lung Diseases (Interstitial Lung Disease) 01/2019
1	Dysostoses 01/2019
1	Tyrosinemias (Tyrosinemia) 01/2018
1	Sphingolipidoses (Sphingolipidosis) 01/2017
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2017
1	Hydrops Fetalis (Fetal Edema) 01/2017
1	Gaucher Disease (Gaucher's Disease) 01/2017
1	Gastroenteritis 09/2016
1	Metabolic Diseases (Metabolic Disease) 09/2016
1	Hyperargininemia 09/2016
1	Liver Failure 02/2016
1	Hypercholesterolemia 02/2016
1	Stroke (Strokes) 05/2015
1	Renal Insufficiency (Renal Failure) 05/2015
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 05/2015

Drug/Important Bio-Agent (IBA)

10	EnzymesIBA 02/2022 - 05/2007
6	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 08/2014 - 04/2006
5	GlycosaminoglycansIBA 01/2022 - 04/2005
5	alpha-Galactosidase (Beano)IBA 04/2008 - 06/2002
4	alpha-Mannosidase (LAMAN)IBA 06/2020 - 01/2018
4	agalsidase beta FDA Link 05/2015 - 01/2006
3	Iduronidase (alpha-L-Iduronidase)IBA 12/2019 - 07/2007
3	globotriaosylceramide (globotriosylceramide)IBA 05/2015 - 05/2007
2	AcidsIBA 02/2022 - 03/2016
2	idursulfase FDA Link 01/2017 - 10/2010
2	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 09/2016 - 01/2008
2	Ligases (Synthetase)IBA 09/2016 - 01/2008
2	4-phenylbutyric acid (Buphenyl)FDA Link 04/2016 - 12/2012
2	galsulfase FDA Link 08/2014 - 03/2014
2	miglustat (Zavesca)FDA Link 11/2011 - 02/2009
2	Glutamic Acid (Glutamate)FDA Link 01/2008 - 08/2005
2	N-acetyl glutamate synthetase deficiencyIBA 08/2005 - 04/2005
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 02/2022
1	LipidsIBA 02/2022
1	SphingomyelinsIBA 02/2022
1	odiparcilIBA 01/2022
1	olipudase alfaIBA 01/2021
1	Alanine Transaminase (SGPT)IBA 01/2021
1	Immunoglobulin G (IgG)IBA 01/2020
1	GlucuronidaseIBA 09/2019
1	HomocysteineIBA 01/2019
1	Pharmaceutical PreparationsIBA 01/2019
1	Betaine (C.B.B.)FDA Link 01/2019
1	nitisinone (Orfadin)FDA Link 01/2018
1	sphingosine phosphorylcholineIBA 01/2017
1	lysoGM1 gangliosideIBA 01/2017
1	Beta ketothiolase deficiencyIBA 01/2017
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	SphingolipidsIBA 01/2017
1	GangliosidesIBA 01/2017
1	Biological ProductsIBA 01/2017
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2017
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 09/2016
1	HHH syndromeIBA 09/2016
1	Benzoates (Benzoate)IBA 09/2016
1	LyasesIBA 09/2016
1	SodiumIBA 09/2016
1	Urea (Carbamide)FDA LinkGeneric 09/2016
1	Succinic Acid (Succinate)IBA 09/2016
1	Sodium Benzoate FDA Link 09/2016
1	N-acetylglutamic acidIBA 03/2016
1	Alkaline PhosphataseIBA 02/2016
1	Transaminases (Aminotransferases)IBA 02/2016
1	CopperIBA 02/2016
1	GalactosidasesIBA 05/2015

Therapy/Procedure

18	Enzyme Replacement Therapy 01/2021 - 07/2004
7	Therapeutics 01/2019 - 08/2002
1	Enzyme Therapy 06/2020
1	Osteotomy 09/2019
1	Orthopedic Procedures 09/2019
1	Activities of Daily Living (ADL) 01/2019
1	Cell Transplantation 11/2018
1	Liver Transplantation 02/2016