Marjan Huizing

National Human Genome Research Institute

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 16 papers. Top paper: “Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study”.

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Genetics in Medicine(2021)10.1038/s41436-021-01259-x

N/A

1.9DataRank · unranked

56 citations

May Christine V. Malicdan, Petcharat Leoyklang, Joseph A. Shrader, Galen O. Joe, Christina Slota +17 more

Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy

Drugs in R&D(2021)10.1007/s40268-021-00343-6

N/A

0.645DataRank · unranked

12 citations

Donald E. Mager, Cindy J. Bednasz, Marjan Huizing, Nuria Carrillo, Scott Van Wart

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

Kidney International Reports(2025)10.1016/j.ekir.2025.103758

N/A

0.104DataRank · unranked

1 citations

Anirban Ganguli, Jonathan Bolaños, Petcharat Leoyklang, Kenneth J. Wilkins, Yi Arial Zeng +10 more

Free sialic acid storage disorder: Progress and promise

Neuroscience Letters(2021)10.1016/j.neulet.2021.135896

N/A

0DataRank · unranked

45 citations

Mary E. Hackbarth, David R. Adams, Melissa Wasserstein, Marc C. Patterson, Steven U. Walkley +11 more

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

N/A

0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women

Clinical Pharmacology in Drug Development(2024)10.1002/cpdd.1433

N/A

0DataRank · unranked

6 citations

Gianfranco Fornasini, Tahlia R. Meola, William A. Gahl, Marjan Huizing, Thomas M. Polasek +2 more

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research(2024)10.1016/j.scr.2024.103600

N/A

0DataRank · unranked

2 citations

Petcharat Leoyklang, Mary E. Hackbarth, Е. С. Пак, Amalia Dutra, Richard G. Tait +6 more

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare(2025)10.1016/j.rare.2025.100065

N/A

0DataRank · unranked

2 citations

Lynne A. Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl +4 more

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

Scientific Reports(2025)10.1038/s41598-025-12682-4

N/A

0DataRank · unranked

2 citations

Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard +7 more

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk

Parkinsonism & Related Disorders(2025)10.1016/j.parkreldis.2025.107790

N/A

0DataRank · unranked

2 citations

Mary B. Makarious, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan +1 more

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Biochemistry and Biophysics Reports(2025)10.1016/j.bbrep.2025.101979

N/A

0DataRank · unranked

1 citations

Mahin Hossain, Laura Pollard, Marjan Huizing, William A. Gahl, Frances M. Platt +2 more

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports(2025)10.1002/jmd2.70029

N/A

0DataRank · unranked

0 citations

Laura Pollard, Lynne A. Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang +5 more

Hermansky–Pudlak syndrome: Mutation update

Human Mutation(2020)10.1002/humu.23968

N/A

0DataRank · unranked

113 citations

May Christine V. Malicdan, Jennifer A. Wang, Hadass Pri‐Chen, Richard A. Hess, Roxanne Fischer +5 more

Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder

Molecular Genetics and Metabolism Reports(2025)10.1016/j.ymgmr.2025.101275

N/A

0DataRank · unranked

0 citations

Kostantin Dobrenis, Allisandra Rha, Laura Pollard, Petcharat Leoyklang, Mariah Marrero +8 more

Elevated Plasma Free Sialic Acid Levels in Individuals with Reduced Glomerular Filtration Rates

Kidney360(2020)10.34067/kid.0002122020

N/A

0DataRank · unranked

6 citations

Nuria Carrillo, Kenneth J. Wilkins, J. Thomas Blake, Petcharat Leoyklang, William A. Gahl +3 more

Inherited disorders of lysosomal membrane transporters

Biochimica et Biophysica Acta (BBA) - Biomembranes(2020)10.1016/j.bbamem.2020.183336

N/A

0DataRank · unranked

38 citations

William A. Gahl, Marjan Huizing