Cheryl Garganta

Cheryl Garganta, M.D., Ph.D.

Associate Professor

Department: MD-PATHOLOGY-GENERAL
Business Phone: (352) 294-5050
Business Email: cgarganta@ufl.edu

Board Certifications

  • Clinical Biochemical Genetics
    American Board of Medical Genetics and Genomics
  • Clinical Genetics
    American Board of Medical Genetics and Genomics

Clinical Profile

Specialties
  • Pediatric Genetics and Metabolism
Areas of Interest
  • Inborn errors of metabolism

Publications

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.
2021
Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment
Pediatric Dermatology. [DOI] 10.1111/pde.14865. [PMID] 34787337.
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.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
2005
Metabolic evaluation of the sick neonate.
Seminars in perinatology. 29(3):164-72 [PMID] 16114579.
View on: PubMed
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.
View on: PubMed
2004
New KIT mutations in patients with piebaldism.
Journal of dermatological science. 35(1):29-33 [PMID] 15194144.
View on: PubMed
2003
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
Molecular genetics and metabolism. 79(1):6-16 [PMID] 12765841.
View on: PubMed
2000
Universal screening for congenital hearing loss.
Pediatric annals. 29(5):302-8 [PMID] 10826325.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed
1990
Lipoamidase activity in human serum is due to biotinidase.
Clinica chimica acta; international journal of clinical chemistry. 189(3):313-25 [PMID] 2225462.
View on: PubMed
1986
Assay and kinetics of arginase.
Analytical biochemistry. 154(2):388-94 [PMID] 3728959.
View on: PubMed
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.
View on: PubMed
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.
View on: PubMed

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