Associate Professor, Pediatrics, Perelman School of Medicine

Medical Genetics

Dr. Can H. Ficicioglu, MD

Can H. Ficicioglu practices Medical Genetics. He studied medicine at New York Medical College. Can H. Ficicioglu, MD is a published MD. He published 37 publications, including: 'ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.'

Publications

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without L...
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience.
Infant with cardiomyopathy: When to suspect inborn errors of metabolism?
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.
A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation.
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
FDG-PET findings in patients with galactosaemia.
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Isolated neonatal seizures: when to suspect inborn errors of metabolism.
Ovarian function in Duarte galactosemia.
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
Failure to thrive: when to suspect inborn errors of metabolism.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
Review of miglustat for clinical management in Gaucher disease type 1.
A false-positive newborn screening result: goat's milk acidopathy.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presenta...
Brain magnetic resonance imaging findings in 49,XXXXY syndrome.
Structural variation of chromosomes in autism spectrum disorder.
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Epimerase-deficiency galactosemia is not a binary condition.
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.

Doctors Specialties

Clinical Biochemical Genetics
Pediatrics
Medical Genetics

Accepted Insurances

Education

New York Medical College
Albert Einstein College of Medicine
Boston Children's Hospital
Istanbul University Faculty of Medicine

Hospital

Hospital of the University of Pennsylvania
Pennsylvania Hospital

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