George A. Díaz

7.0k total citations
101 papers, 3.6k citations indexed

About

George A. Díaz is a scholar working on Molecular Biology, Clinical Biochemistry and Physiology. According to data from OpenAlex, George A. Díaz has authored 101 papers receiving a total of 3.6k indexed citations (citations by other indexed papers that have themselves been cited), including 54 papers in Molecular Biology, 40 papers in Clinical Biochemistry and 28 papers in Physiology. Recurrent topics in George A. Díaz's work include Metabolism and Genetic Disorders (40 papers), Lysosomal Storage Disorders Research (13 papers) and Folate and B Vitamins Research (12 papers). George A. Díaz is often cited by papers focused on Metabolism and Genetic Disorders (40 papers), Lysosomal Storage Disorders Research (13 papers) and Folate and B Vitamins Research (12 papers). George A. Díaz collaborates with scholars based in United States, United Kingdom and France. George A. Díaz's co-authors include Melissa Wasserstein, Robert J. Gorlin, Bruce D. Gelb, William T. McAllister, Shoichiro Taniuchi, John N. Lukens, Mary E. Klotman, Fleur François, J. Bohinjec and Curtis A. Raskin and has published in prestigious journals such as Proceedings of the National Academy of Sciences, Circulation and Nature Genetics.

In The Last Decade

George A. Díaz

96 papers receiving 3.5k citations

Peers

George A. Díaz
Steen Kølvraa Denmark
Mustafa A. Salih Saudi Arabia
David Dimmock United States
Andrew Lee United States
Marc De Braekeleer France
Srinivasa R. Nagalla United States
Aritoshi Iida Japan
Pekka Ellonen Finland
Lucio Pastore Italy
Alexandre Montpetit Canada
Steen Kølvraa Denmark
George A. Díaz
Citations per year, relative to George A. Díaz George A. Díaz (= 1×) peers Steen Kølvraa

Countries citing papers authored by George A. Díaz

Since Specialization
Citations

This map shows the geographic impact of George A. Díaz'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 George A. Díaz with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites George A. Díaz more than expected).

Fields of papers citing papers by George A. Díaz

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by George A. Díaz. 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 George A. Díaz. The network helps show where George A. Díaz may publish in the future.

Co-authorship network of co-authors of George A. Díaz

This figure shows the co-authorship network connecting the top 25 collaborators of George A. Díaz. A scholar is included among the top collaborators of George A. Díaz 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 George A. Díaz. George A. Díaz is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Simpson, William, Andrew Ting, Louise Bier, et al.. (2025). Benefits of early intervention with olipudase alfa in symptomatic children with acid sphingomyelinase deficiency: A sibling case-comparison study. Molecular Genetics and Metabolism Reports. 43. 101210–101210.
2.
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.
3.
Baruteau, Julien, Anil Dhawan, Anupam Chakrapani, et al.. (2025). P008: A first in human, single arm, open label phase 1/2 study evaluating ECUR-506 in neonatal OTC Deficiency: Initial Observations. Genetics in Medicine Open. 3. 102852–102852. 1 indexed citations
4.
Flore, Leigh Anne, April Rasala Lehman, Natasha Shur, et al.. (2023). Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin. Molecular Genetics and Metabolism. 139(2). 107605–107605. 2 indexed citations
5.
Vockley, Jerry, Neal Sondheimer, Marja Puurunen, et al.. (2023). Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial. Nature Metabolism. 5(10). 1685–1690. 41 indexed citations
6.
7.
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
8.
Lindsley, Kristina, et al.. (2021). PRO37 The Epidemiology, Methods of Diagnosis, and Clinical Management of Patients with Arginase 1 Deficiency (ARG1-D): A Systematic Review. Value in Health. 24. S204–S204. 1 indexed citations
9.
Berry, Susan A., Nicola Longo, George A. Díaz, et al.. (2017). Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years. Molecular Genetics and Metabolism. 122(3). 46–53. 14 indexed citations
10.
Leggett, J. E., et al.. (2016). Surveillance of guideline practices for duodenoscope and linear echoendoscope reprocessing in a large healthcare system. Gastrointestinal Endoscopy. 84(3). 392–399.e3. 46 indexed citations
11.
Díaz, George A., et al.. (2016). Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders. Expert Review of Endocrinology & Metabolism. 11(6). 467–473. 11 indexed citations
12.
Vockley, Jerry, Joel Charrow, George A. Díaz, et al.. (2016). Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Molecular Genetics and Metabolism. 119(3). 223–231. 67 indexed citations
13.
Mokhtarani, Masoud, George A. Díaz, Uta Lichter‐Konecki, et al.. (2015). Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate. SHILAP Revista de lepidopterología. 5. 12–14. 3 indexed citations
14.
Smith, Wendy E., George A. Díaz, Uta Lichter‐Konecki, et al.. (2013). Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate. The Journal of Pediatrics. 162(6). 1228–1234.e1. 33 indexed citations
15.
Weisfeld‐Adams, James D., H. Allison Bender, Tamiesha Frempong, et al.. (2013). Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. Molecular Genetics and Metabolism. 110(3). 241–247. 66 indexed citations
16.
Lieber, Ernest, et al.. (2010). Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic Function and Choanal Development in Humans. The American Journal of Human Genetics. 87(3). 436–444. 64 indexed citations
17.
Díaz, George A. & Anna Virginia Gulino. (2005). WHIM syndrome: A defect in CXCR4 signaling. Current Allergy and Asthma Reports. 5(5). 350–355. 45 indexed citations
18.
Gorlin, Robert J., John N. Lukens, Shoichiro Taniuchi, et al.. (2003). Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genetics. 34(1). 70–74. 483 indexed citations
19.
Díaz, George A., Bruce D. Gelb, Marios Kambouris, et al.. (2002). Mutation of a tubulin folding gene, TCFE, causes the autosomal recessive Kenny-Caffey syndrome. Journal of Investigative Medicine. 50(2). 161. 1 indexed citations
20.
Díaz, George A., Bruce D. Gelb, Neil Risch, et al.. (2000). Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations. The American Journal of Human Genetics. 66(6). 1821–1832. 52 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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