Nathalie Guffon

10.1k total citations · 1 hit paper
138 papers, 6.5k citations indexed

About

Nathalie Guffon is a scholar working on Physiology, Rheumatology and Molecular Biology. According to data from OpenAlex, Nathalie Guffon has authored 138 papers receiving a total of 6.5k indexed citations (citations by other indexed papers that have themselves been cited), including 101 papers in Physiology, 39 papers in Rheumatology and 38 papers in Molecular Biology. Recurrent topics in Nathalie Guffon's work include Lysosomal Storage Disorders Research (91 papers), Trypanosoma species research and implications (37 papers) and Glycogen Storage Diseases and Myoclonus (35 papers). Nathalie Guffon is often cited by papers focused on Lysosomal Storage Disorders Research (91 papers), Trypanosoma species research and implications (37 papers) and Glycogen Storage Diseases and Myoclonus (35 papers). Nathalie Guffon collaborates with scholars based in France, United States and United Kingdom. Nathalie Guffon's co-authors include Dominique P. Germain, William R. Wilcox, Robert J. Desnick, Gabor E. Linthorst, J. E. Wraith, Louis R. Caplan, Philip Lee, Christine M. Eng, Michael Beck and Roberto Giugliani and has published in prestigious journals such as New England Journal of Medicine, SHILAP Revista de lepidopterología and PLoS ONE.

In The Last Decade

Nathalie Guffon

134 papers receiving 6.3k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Safety and Efficacy of Recombinant Human α-Galactosidase A Replacement Therapy in Fabry's Disease

2001 1.1k citations Nathalie Guffon, William R. Wilcox et al. profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Nathalie Guffon France	35	5.2k	2.4k	1.7k	1.2k	1.1k	138	6.5k
Emil Kakkis United States	37	3.5k 0.7×	1.7k 0.7×	1.2k 0.7×	1.1k 0.9×	623 0.6×	73	5.0k
Joel Charrow United States	46	4.1k 0.8×	2.8k 1.2×	1.2k 0.7×	1.5k 1.2×	1.3k 1.3×	143	7.1k
Gabor E. Linthorst Netherlands	41	5.6k 1.1×	2.8k 1.2×	1.6k 0.9×	1.4k 1.1×	1.6k 1.5×	89	7.1k
Rossella Parini Italy	38	3.1k 0.6×	1.3k 0.5×	1.6k 0.9×	1.5k 1.2×	750 0.7×	179	5.1k
Anna Tylki‐Szymańska Poland	39	4.1k 0.8×	1.8k 0.8×	987 0.6×	1.6k 1.3×	1.2k 1.1×	263	5.4k
Eugen Mengel Germany	42	4.0k 0.8×	1.3k 0.5×	1.1k 0.7×	960 0.8×	1.1k 1.0×	137	4.7k
Tadao Orii Japan	48	4.2k 0.8×	1.9k 0.8×	1.2k 0.7×	2.7k 2.2×	1.1k 1.0×	251	7.1k
Chester B. Whitley United States	39	3.5k 0.7×	1.4k 0.6×	908 0.5×	1.6k 1.3×	460 0.4×	201	5.1k
J. E. Wraith United Kingdom	37	4.2k 0.8×	1.9k 0.8×	1.3k 0.8×	573 0.5×	760 0.7×	84	5.0k
Gregory M. Pastores United States	50	7.5k 1.4×	3.1k 1.3×	1.4k 0.8×	2.2k 1.8×	2.3k 2.2×	204	8.8k

Countries citing papers authored by Nathalie Guffon

Since Specialization

Citations

This map shows the geographic impact of Nathalie Guffon's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Nathalie Guffon with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Nathalie Guffon more than expected).

Fields of papers citing papers by Nathalie Guffon

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Nathalie Guffon. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Nathalie Guffon. The network helps show where Nathalie Guffon may publish in the future.

Co-authorship network of co-authors of Nathalie Guffon

This figure shows the co-authorship network connecting the top 25 collaborators of Nathalie Guffon. A scholar is included among the top collaborators of Nathalie Guffon based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Nathalie Guffon. Nathalie Guffon is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Scarpa, Maurizio, George A. Díaz, Roberto Giugliani, et al.. (2025). Long‐Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency. Journal of Inherited Metabolic Disease. 48(5). e70086–e70086.

Harding, Cary O., Janet Thomas, María L. Couce, et al.. (2025). P171: Durable efficacy and safety of DTX301: Long-term follow up of a phase 1/2 trial in adults with ornithine transcarbamylase deficiency*. Genetics in Medicine Open. 3. 102136–102136. 2 indexed citations

Muenzer, Joseph, Barbara K. Burton, Paul Harmatz, et al.. (2024). Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase‐ IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II. Journal of Inherited Metabolic Disease. 48(3). e12790–e12790. 1 indexed citations

Thomas, Janet, Wen‐Hann Tan, Aneal Khan, et al.. (2024). Long-term safety and efficacy of DTX301 in adults with late-onset ornithine transcarbamylase (OTC) deficiency: A Phase 1/2 trial. Molecular Genetics and Metabolism. 141(4). 108266–108266. 1 indexed citations

Vianey‐Saban, Christine, Nathalie Guffon, Alain Fouilhoux, & Cécile Acquaviva. (2023). Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges. Journal of Inherited Metabolic Disease. 46(5). 848–873. 10 indexed citations

Guffon, Nathalie, Didier Lacombe, Esther Noël, et al.. (2022). Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study. Orphanet Journal of Rare Diseases. 17(1). 448–448. 3 indexed citations

Díaz, George A., Roberto Giugliani, Nathalie Guffon, et al.. (2022). Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results. Orphanet Journal of Rare Diseases. 17(1). 437–437. 28 indexed citations

Hopkin, Robert J., Gustavo Cabrera, John L. Jefferies, et al.. (2022). Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Molecular Genetics and Metabolism. 138(2). 106967–106967. 13 indexed citations

Pons, Linda, Cécile Acquaviva, Julie Steffann, et al.. (2020). Intrafamilial Variability in <b><i>LPIN1</i></b>-Related Rhabdomyolysis. Molecular Syndromology. 11(3). 153–156. 1 indexed citations

10.

Clarke, L., Roberto Giugliani, Nathalie Guffon, et al.. (2019). Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clinical Genetics. 96(4). 281–289. 51 indexed citations

11.

Borgwardt, Line, Nathalie Guffon, Yasmina Amraoui, et al.. (2018). Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial. Journal of Inherited Metabolic Disease. 41(6). 1215–1223. 38 indexed citations

12.

Eisengart, Julie B., Kyle Rudser, Yong Xue, et al.. (2018). Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. Genetics in Medicine. 20(11). 1423–1429. 43 indexed citations

13.

Pettazzoni, Magali, Roseline Froissart, Cécile Pagan, et al.. (2017). LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. PLoS ONE. 12(7). e0181700–e0181700. 49 indexed citations

14.

Fukao, Toshiyuki, Jörn Oliver Sass, Petri Kursula, et al.. (2011). Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1812(5). 619–624. 26 indexed citations

15.

Decker, Celeste, Zi‐Fan Yu, Roberto Giugliani, et al.. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. Journal of Pediatric Rehabilitation Medicine. 3(2). 89–100. 52 indexed citations

16.

Levrat, Virginie, et al.. (2008). Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?. Orphanet Journal of Rare Diseases. 3(1). 2–2. 29 indexed citations

17.

Harmatz, Paul, Roberto Giugliani, Ida Vanessa Döederlein Schwartz, et al.. (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. Molecular Genetics and Metabolism. 94(4). 469–475. 159 indexed citations

18.

Schmidt, Éva, Jean‐Marc Nuoffer, Johannes Häberle, et al.. (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1740(1). 54–59. 21 indexed citations

19.

Guffon, Nathalie. (2003). La mucopolysaccharidose type 1 (MPS I) : présentation clinique et traitement actuel. MTP. Médecine thérapeutique pédiatrie. 6(2). 91–97. 1 indexed citations

20.

Guffon, Nathalie, Christine Vianey‐Saban, Marianne Till, et al.. (1993). [Multiple acyl-CoA dehydrogenase deficiency. Report of 2 siblings].. PubMed. 48(5). 365–71. 1 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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