James B. Gibson, Associate Professor; M.D., Ph.D.
Telephone: (210) 562-5844 E-mail: gibsonJ3@uthscsa.edu

 Metabolic Genetics


 
 

Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME.
Congenital malformations among liveborn infants with trisomies 18 and 13.
Am J Med Genet A. 2006 Aug 15;140(16):1749-56.
PMID: 16835915

Phillips TM, Gibson JB, Ellison DA.
Fumarate hydratase deficiency in monozygotic twins.
Pediatr Neurol. 2006 Aug;35(2):150-3.
PMID: 16876016

Greenberg SB, Gibson J.
New findings in idiopathic arterial calcification of infancy detected by MDCT.
AJR Am J Roentgenol. 2005 Aug;185(2):530-2. No abstract available.
PMID: 16037532

Parham DM, Savell VH, Kokes CP, Erickson SA, Peretti FJ, Gibson JB, Sturner WQ.
Incidence of autopsy findings in unexpected deaths of children and adolescents.
Pediatr Dev Pathol. 2003 Mar-Apr;6(2):142-55. Epub 2002 Dec 17.
PMID: 12481231

Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ.
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency.
J Inherit Metab Dis. 2001 Oct;24(5):587-95.
PMID: 11757586

Yager C, Gibson J, States B, Elsas LJ, Segal S.
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.
J Inherit Metab Dis. 2001 Aug;24(4):465-76.
PMID: 11596650

Stark KL, Gibson JB, Hertle RW, Brodsky MC.
Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia.
Am J Ophthalmol. 2000 Oct;130(4):533-5.
PMID: 11024435

James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW.
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.
Am J Clin Nutr. 1999 Oct;70(4):495-501.
PMID: 10500018