Cheryl Garganta, M.D., Ph.D.
Associate Professor
Department:
Pediatric Genetics and Metabolism
Business Phone:
(352) 294-5050
Business Email:
cgarganta@ufl.edu
Board Certifications
-
Clinical Biochemical GeneticsAmerican Board of Medical Genetics and Genomics
-
Clinical GeneticsAmerican Board of Medical Genetics and Genomics
Clinical Profile
Specialties
- Pediatric Genetics and Metabolism
Subspecialties
- Clinical Genetics and Genomics
Areas of Interest
- Genetics
- Inborn errors of metabolism
Publications
Academic Articles
2022
Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment.
Pediatric dermatology.
39(1):151-152
[DOI] 10.1111/pde.14865.
[PMID] 34787337.
2021
Newborn Screening-What Parents Need to Know About Their Infant’s First Tests.
JAMA pediatrics.
175(9)
[DOI] 10.1001/jamapediatrics.2021.1519.
[PMID] 34309644.
2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
Genetics in medicine : official journal of the American College of Medical Genetics.
23(9):1604-1615
[DOI] 10.1038/s41436-021-01200-2.
[PMID] 34040193.
2020
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
American journal of medical genetics. Part A.
182(5):1201-1208
[DOI] 10.1002/ajmg.a.61512.
[PMID] 32100459.
2017
Association between body weight and composition and plasma 25-hydroxyvitamin D level in the Diabetes Prevention Program.
European journal of nutrition.
56(1):161-170
[DOI] 10.1007/s00394-015-1066-z.
[PMID] 26525562.
2017
Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.
JIMD reports.
32:25-32
[DOI] 10.1007/8904_2016_547.
[PMID] 27295195.
2014
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
JIMD reports.
13:1-14
[DOI] 10.1007/8904_2013_262.
[PMID] 24190796.
2014
Plasma 25-hydroxyvitamin D and risk of metabolic syndrome: an ancillary analysis in the Diabetes Prevention Program.
European journal of clinical nutrition.
68(3):376-83
[DOI] 10.1038/ejcn.2013.293.
[PMID] 24448494.
2014
Secondary biochemical and morphological consequences in lysosomal storage diseases.
Biochemistry. Biokhimiia.
79(7):619-36
[DOI] 10.1134/S0006297914070049.
[PMID] 25108325.
2014
Vitamin D deficiency is associated with progression of knee osteoarthritis.
The Journal of nutrition.
144(12):2002-8
[DOI] 10.3945/jn.114.193227.
[PMID] 25411034.
2012
Plasma 25-hydroxyvitamin D and progression to diabetes in patients at risk for diabetes: an ancillary analysis in the Diabetes Prevention Program.
Diabetes care.
35(3):565-73
[DOI] 10.2337/dc11-1795.
[PMID] 22323410.
2010
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain & development.
32(7):550-5
[DOI] 10.1016/j.braindev.2009.08.005.
[PMID] 19751967.
2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism.
96(3):85-90
[DOI] 10.1016/j.ymgme.2008.09.008.
[PMID] 19157942.
2008
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Molecular genetics and metabolism.
93(4):363-70
[PMID] 18155630.
2008
Blockade of GABA synthesis only affects neural excitability under activated conditions in rat hippocampal slices.
Neurochemistry international.
53(1-2):22-32
[DOI] 10.1016/j.neuint.2008.04.006.
[PMID] 18534717.
2006
Validation of high-throughput methods for measuring blood urea nitrogen and urinary albumin concentrations in mice.
Comparative medicine.
56(6):482-6
[PMID] 17219778.
2005
Assays for measuring extracellular GABA levels and cell migration rate in acute slices.
Brain research. Brain research protocols.
14(2):126-34
[PMID] 15721818.
2005
Metabolic evaluation of the sick neonate.
Seminars in perinatology.
29(3):164-72
[PMID] 16114579.
2005
Recurrent high anion gap metabolic acidosis secondary to 5-oxoproline (pyroglutamic acid).
American journal of kidney diseases : the official journal of the National Kidney Foundation.
46(1):e4-10
[PMID] 15983950.
2004
New KIT mutations in patients with piebaldism.
Journal of dermatological science.
35(1):29-33
[PMID] 15194144.
2003
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Molecular genetics and metabolism.
79(1):6-16
[PMID] 12765841.
2000
Universal screening for congenital hearing loss.
Pediatric annals.
29(5):302-8
[PMID] 10826325.
1996
A colorimetric assay of lipoyl-N-epsilon-lysine hydrolysis activity using 2,6-dibromoquinone-4-chlorimide.
Analytical biochemistry.
240(2):177-84
[PMID] 8811903.
1992
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.
American journal of medical genetics.
44(2):129-35
[PMID] 1456279.
1990
Lipoamidase activity in human serum is due to biotinidase.
Clinica chimica acta; international journal of clinical chemistry.
189(3):313-25
[PMID] 2225462.
1986
Assay and kinetics of arginase.
Analytical biochemistry.
154(2):388-94
[PMID] 3728959.
1985
Deficiency of a mouse kidney metalloendopeptidase activity: immunological demonstration of an altered gene product.
Biochemical and biophysical research communications.
132(1):171-7
[PMID] 3933495.
1982
5 alpha, 6 alpha- and 5 beta, 6 beta-Dichloromethylene adducts of 3 beta-acetoxy-5-androsten-17-one.
Steroids.
39(4):371-80
[PMID] 7179347.
Grants
Jul 2016
ACTIVE
CMS Newborn Screening – COQWX
Role: Co-Project Director/Principal Investigator
Funding: FL DEPT OF HLTH CHILDRENS MED SERVS
Education
Residency-Clinical and Biochemical Genetics
1998-2001
·
Yale University School of Medicine
Doctoral Degree
1995
·
Virginia Commonwealth University
Residency – Pediatrics
1994
·
Medical College of Virginia
Internship – Pediatrics
1992
·
Medical College of Virginia
Medical Degree
1991
·
Virginia Commonwealth University
Masters Degree
1983
·
Virginia Commonwealth University
Bachelor Degree
1981
·
Wheaton College
Contact Details
Phones:
- Business:
- (352) 294-5050
Emails:
- Business:
- cgarganta@ufl.edu
Addresses:
- Business Mailing:
-
PO Box 100296
GAINESVILLE FL 32610 - Business Street:
-
1600 SW ARCHER RD
GAINESVILLE FL 32610