List of works - Can Ficicioglu

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

scientific article published on 01 December 2006

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

scientific article

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

scientific article published on 20 January 2009

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

scientific article

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation

scientific article published on July 2013

A false-positive newborn screening result: goat's milk acidopathy

scientific article published on 01 July 2008

Adolescent presentations of inborn errors of metabolism

scientific article published on May 2015

An 8-year-old girl with abdominal pain and mental status changes

scientific article published on June 2015

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

scientific article

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result

scientific article published on 15 February 2005

Brain magnetic resonance imaging findings in 49,XXXXY syndrome

scientific article published on June 2008

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

scientific article published in November 2005

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

scientific article

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

scientific article

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

scientific article

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

scientific article published on 31 January 2018

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

scientific article published on 03 June 2008

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

scientific article published in February 2007

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

scientific article published on 30 November 2020

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

scientific article

Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia

scientific article published on 07 June 2007

Epimerase-deficiency galactosemia is not a binary condition

scientific article

FDG-PET findings in patients with galactosaemia

scientific article published on 20 May 2008

Failure to thrive: when to suspect inborn errors of metabolism

scientific article published on 10 August 2009

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

scientific article published on 9 December 2004

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 27 January 2010

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

scientific article

Isolated neonatal seizures: when to suspect inborn errors of metabolism

scientific article

Liver pathology in infantile mitochondrial DNA depletion syndrome

scientific article

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

scientific article (publication date: August 2006)

Long-term follow-up of four patients affected by HHH syndrome

scientific article published on 23 March 2012

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience

scientific article published on 16 February 2015

Low bone mineral density is a common finding in patients with homocystinuria.

scientific article published on 10 December 2015

MRI findings in succinic semialdehyde dehydrogenase deficiency

scientific article published on 01 February 2000

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate

scientific article

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

scientific article

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

scientific article

Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes

scientific article published on 01 January 1996

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach

scientific article

Ovarian function in Duarte galactosemia

scientific article

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

scientific article published on 24 February 2020

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications

scientific article published on 10 February 2014

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy

scientific article published on 13 April 2014

Severe metabolic acidosis in a newborn with an abnormal newborn screen

scientific article published on 01 May 2012

Structural variation of chromosomes in autism spectrum disorder

scientific article

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

scientific article published on 8 January 2010

Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening

scientific article

List of works by Can Ficicioglu

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation

A false-positive newborn screening result: goat's milk acidopathy

Adolescent presentations of inborn errors of metabolism

An 8-year-old girl with abdominal pain and mental status changes

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result

Brain magnetic resonance imaging findings in 49,XXXXY syndrome

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia

Epimerase-deficiency galactosemia is not a binary condition

FDG-PET findings in patients with galactosaemia

Failure to thrive: when to suspect inborn errors of metabolism

Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Isolated neonatal seizures: when to suspect inborn errors of metabolism

Liver pathology in infantile mitochondrial DNA depletion syndrome

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

Long-term follow-up of four patients affected by HHH syndrome

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience

Low bone mineral density is a common finding in patients with homocystinuria.

MRI findings in succinic semialdehyde dehydrogenase deficiency

Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Multiple phenotypes in phosphoglucomutase 1 deficiency

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach

Ovarian function in Duarte galactosemia

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy

Severe metabolic acidosis in a newborn with an abnormal newborn screen

Structural variation of chromosomes in autism spectrum disorder

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening