Biochemical Genetics

Medical Genetics

Dr. Charles P. Venditti, MD

Doctor Charles P. Venditti, MD is an expert in the field of Medical Genetics. He researched medicine at Penn State College of Medicine. He received awards:"Elected Member". Dr. Charles P. Venditti is a published doctor. He has 47 papers published. The most current publication "46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis."

Publications

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
Genotoxicity in Mice Following AAV Gene Delivery: A Safety Concern for Human Gene Therapy?
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review.
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia.
Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney.
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease : Response to letter "Disappearance of congenital noncompaction in hereditary co...
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Renal growth in isolated methylmalonic acidemia.
Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease.
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
A Barrel of Monkeys: scAAV8 Gene Therapy for Hemophilia in Nonhuman Primates.
Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia.
Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.
Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.
Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia.
Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.
Mitochondrial dysfunction in mut methylmalonic acidemia.
Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mi...
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.
Omodysplasia: an affected mother and son.
46,XX, inv(6)(p21.1p23) in a pedigree with hereditary haemochromatosis.
Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome.
Clinical and molecular analyses of deletion 3p25-pter syndrome.
Hydroxocobalamin dose escalation improves metabolic control in cblC.
Enamel defects and salivary methylmalonate in methylmalonic acidemia.
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Genetic and genomic systems to study methylmalonic acidemia.
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
Neurologic considerations in propionic acidemia.
Acute management of propionic acidemia.
Natural history of propionic acidemia.
Chronic management and health supervision of individuals with propionic acidemia.
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
Response to Cunningham et al.

Schools

Pennsylvania State University College of Medicine

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Awards

Elected Member

Education

Children's Hospital of Philadelphia
Massachusetts General Hospital
Penn State College of Medicine

Helpful Reviews

Give Anonymous Review

Similar Doctors

	Roscoe O. Brady This Doctor is OpenDoctor Recommended.
	Dr. David R. Adams, MD
	Dr. Nicola C. Ho, MD This Doctor is OpenDoctor Recommended.
	Dr. Eirini Manoli, MD
	Dr. Melissa A. Merideth, MD This Doctor is OpenDoctor Recommended.
	Dr. Joan C. Marini, MD This Doctor is OpenDoctor Recommended.
	Tania Heller, MB BCH This Doctor is OpenDoctor Recommended.
	Dr. Eunice Torres, MD
	Dr. Melinda A. Thiam, MD
	Dr. Ann T. Schwartz, MD
	Dr. Juvianee I. Estrada Veras, MD This Doctor is OpenDoctor Recommended.
	Dr. Melissa A. Parisi, MD This Doctor is OpenDoctor Recommended.
	Dr. Sondra W. Levin, MD This Doctor is OpenDoctor Recommended.
	Dr. Terrance K. Egland, MD This Doctor is OpenDoctor Recommended.
	Dr. Ellen Sidransky, MD
	Dr. Alan E. Guttmacher, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Nuria Carrillo Carrasco, MD This Doctor is OpenDoctor Recommended.
	Dr. Leslie G. Biesecker, MD
	Dr. Ziad H. Idriss, MD This Doctor is OpenDoctor Recommended.
	Dr. Nicholas J. Wells, MD This Doctor is OpenDoctor Recommended.
	Dr. Stephen G. Kaler, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Dr. Richard E. Powell, MD