Charles Marques Lourenço

Faculdade de Medicina de São José do Rio Preto

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

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 6 papers. Top paper: “Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1”.

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.11.005

N/A

0DataRank · unranked

23 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +12 more

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.01.007

N/A

0DataRank · unranked

37 citations

Pamela Kell, Dennis J. Dietzen, Nicole Y. Farhat, An Dang, Forbes D. Porter +13 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12589

N/A

0DataRank · unranked

16 citations

Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng +19 more

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more