Can Ficicioglu

Can Ficicioglu

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Can Ficicioglu

Can Ficicioglu

Publications by authors named "Can Ficicioglu"

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Response to Neeleman et al.

Genet Med 2019 Oct 1. Epub 2019 Oct 1.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0659-yDOI Listing
October 2019

Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.

J Child Neurol 2019 Oct 31:883073819881940. Epub 2019 Oct 31.

Section of Genetics, Department of Pediatrics, University of Colorado, School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1177/0883073819881940DOI Listing
October 2019

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy.

Orphanet J Rare Dis 2019 Aug 14;14(1):198. Epub 2019 Aug 14.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13023-019-1129-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692931PMC
August 2019

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.

Insights Imaging 2019 Jul 10;10(1):70. Epub 2019 Jul 10.

Division of Human Genetics, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd, Floor 9, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s13244-019-0743-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616606PMC
July 2019

Early Indicators of Creatine Transporter Deficiency.

J Pediatr 2019 03 20;206:283-285. Epub 2018 Dec 20.

National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1016/j.jpeds.2018.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693671PMC
March 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Failure to Thrive: An Expanded Differential Diagnosis.

J Pediatr Genet 2019 Mar 31;8(1):27-32. Epub 2018 Aug 31.

Department of Pediatrics, Penn State Health Children's Hospital, Hershey, Pennsylvania, United States.

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http://dx.doi.org/10.1055/s-0038-1669445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375721PMC
March 2019

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

J Inherit Metab Dis 2019 01;42(1):140-146

Division of Human Genetics, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd, Floor 9, 19104, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/jimd.12035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279618PMC
January 2019

Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

Appl Neuropsychol Child 2018 Apr-Jun;7(2):143-149. Epub 2017 Jan 10.

b Department of Pediatrics, Division of Human Genetics , CHOP , Philadelphia , Pennsylvania.

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https://www.tandfonline.com/doi/full/10.1080/21622965.2016.1
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http://dx.doi.org/10.1080/21622965.2016.1270211DOI Listing
August 2018

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

Am J Med Genet A 2018 02 6;176(2):301-310. Epub 2017 Dec 6.

Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.38551
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http://dx.doi.org/10.1002/ajmg.a.38551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921PMC
February 2018

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Orphanet J Rare Dis 2018 02 1;13(1):30. Epub 2018 Feb 1.

Wadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY, 12201, USA.

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http://dx.doi.org/10.1186/s13023-018-0766-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796396PMC
February 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Genet Med 2017 08 2;19(8):926-935. Epub 2017 Feb 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2016.214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082364PMC
August 2017

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.

Int J Neonatal Screen 2017 Jun 28;3(2). Epub 2017 Apr 28.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, 19104 PA, USA.

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http://dx.doi.org/10.3390/ijns3020010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523953PMC
June 2017

New tools and approaches to newborn screening: ready to open Pandora's box?

Authors:
Can Ficicioglu

Cold Spring Harb Mol Case Stud 2017 05;3(3):a001842

Children's Hospital of Philadelphia (CHOP), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1101/mcs.a001842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411690PMC
May 2017

Erratum.

JIMD Rep 2017 ;33:109-110

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.

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http://dx.doi.org/10.1007/8904_2017_587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413458PMC
January 2017

Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Genet Med 2016 12 5;18(12):1315-1319. Epub 2016 May 5.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://www.nature.com/articles/gim201649
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http://dx.doi.org/10.1038/gim.2016.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538896PMC
December 2016

Response to van Rijt et al.

Genet Med 2016 12 22;18(12):1324. Epub 2016 Sep 22.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://www.nature.com/articles/gim2016144
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http://dx.doi.org/10.1038/gim.2016.144DOI Listing
December 2016

Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.

Mol Genet Metab 2016 08 4;118(4):232-43. Epub 2016 Jun 4.

Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, United States; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, United States. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/S109671921630095
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http://dx.doi.org/10.1016/j.ymgme.2016.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970936PMC
August 2016

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

JIMD Rep 2017 12;34:43-47. Epub 2016 Aug 12.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2016_2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509549PMC
August 2016

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

Ophthalmic Genet 2015 10;36(4):339-48. Epub 2014 Feb 10.

b Children's Hospital of Philadelphia, Department of Ophthalmology, University of Pennsylvania , and.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2014.88
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http://dx.doi.org/10.3109/13816810.2014.885059DOI Listing
July 2016

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

JIMD Rep 2017 12;33:93-97. Epub 2016 Apr 12.

Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.

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http://link.springer.com/10.1007/8904_2016_528
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http://dx.doi.org/10.1007/8904_2016_528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413452PMC
April 2016

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

Mol Genet Metab 2016 Mar 10;117(3):351-4. Epub 2015 Dec 10.

The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788514PMC
March 2016

ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

JIMD Rep 2016 27;30:33-37. Epub 2016 Feb 27.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3501 Civic Center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/8904_2016_538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110442PMC
February 2016

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

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7875-87

Scheie Eye Institute and the Perelman Center for Advanced Medicine, Department of Ophthamology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States 3Division of Ophthalmology, The Children's Hospital of.

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http://dx.doi.org/10.1167/iovs.15-17857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682491PMC
December 2015

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

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

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

Pediatr Emerg Care 2015 Jun;31(6):459-62

Section of Metabolic Disease The Children's Hospital of Philadelphia and Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia, PA.

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http://dx.doi.org/10.1097/PEC.0000000000000504DOI Listing
June 2015

Adolescent presentations of inborn errors of metabolism.

J Adolesc Health 2015 May;56(5):477-82

Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.jadohealth.2015.01.008DOI Listing
May 2015

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

Mol Genet Metab 2015 Apr 16;114(4):557-63. Epub 2015 Feb 16.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.02.003DOI Listing
April 2015

Infant with cardiomyopathy: When to suspect inborn errors of metabolism?

World J Cardiol 2014 Nov;6(11):1149-55

Stephanie L Byers, Can Ficicioglu, The Children's Hospital of Philadelphia, Section of Metabolic Disease, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, United States.

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http://www.wjgnet.com/1949-8462/full/v6/i11/1149.htm
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http://dx.doi.org/10.4330/wjc.v6.i11.1149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244612PMC
November 2014

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

Pediatr Neurol 2014 Aug 13;51(2):266-70. Epub 2014 Apr 13.

Department of Pediatrics, Division of Metabolism, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.005DOI Listing
August 2014

Liver pathology in infantile mitochondrial DNA depletion syndrome.

Pediatr Dev Pathol 2013 Nov-Dec;16(6):415-24. Epub 2013 Sep 19.

1  Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 USA.

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http://dx.doi.org/10.2350/12-07-1229-OA.1DOI Listing
February 2014

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

J Clin Neurol 2013 Jul 1;9(3):151-6. Epub 2013 Jul 1.

Children's Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine, Section of Biochemical Genetics, Philadelphia, PA, USA.

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http://dx.doi.org/10.3988/jcn.2013.9.3.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722466PMC
July 2013

Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.

JIMD Rep 2013 29;10:53-6. Epub 2012 Dec 29.

Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/8904_2012_202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755580PMC
May 2013

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

Clin Chim Acta 2012 Jul 23;413(13-14):1151-5. Epub 2012 Mar 23.

Korea Genetic Research Center, Cheong Ju, Heung Deok Gu, Republic of Korea.

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http://dx.doi.org/10.1016/j.cca.2012.03.015DOI Listing
July 2012

Severe metabolic acidosis in a newborn with an abnormal newborn screen.

Clin Pediatr (Phila) 2012 May;51(5):518-20

The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://journals.sagepub.com/doi/10.1177/0009922811429483
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http://dx.doi.org/10.1177/0009922811429483DOI Listing
May 2012

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

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

Isolated neonatal seizures: when to suspect inborn errors of metabolism.

Pediatr Neurol 2011 Nov;45(5):283-91

Department of Pediatrics, Children’s Hospital of Philadelphia, 3501 Civic Center Boulevard, Colket (CTRB), 9th Floor, Number 54, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789941100349
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http://dx.doi.org/10.1016/j.pediatrneurol.2011.07.006DOI Listing
November 2011

Ovarian function in Duarte galactosemia.

Fertil Steril 2011 Aug 29;96(2):469-473.e1. Epub 2011 Jun 29.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2011.05.088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773175PMC
August 2011

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

Biochim Biophys Acta 2011 May 2;1812(5):619-24. Epub 2011 Feb 2.

Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Gifu 501-1194, Japan.

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http://dx.doi.org/10.1016/j.bbadis.2011.01.015DOI Listing
May 2011

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

J Inherit Metab Dis 2010 Dec 27;33 Suppl 3:S129-31. Epub 2010 Jan 27.

Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 34th& Civic blvd. 9S23, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s10545-009-9041-6DOI Listing
December 2010

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

Clin Chem 2010 Jul 20;56(7):1177-82. Epub 2010 May 20.

Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2010.144097
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http://dx.doi.org/10.1373/clinchem.2010.144097DOI Listing
July 2010

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

J Pediatr 2010 Mar 8;156(3):492-4. Epub 2010 Jan 8.

Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.jpeds.2009.10.031DOI Listing
March 2010

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

Clin Chem 2010 Mar 14;56(3):437-44. Epub 2010 Jan 14.

PerkinElmer Genetics, Inc., 90 Emerson Lane, Bridgeville, PA 15017, USA.

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http://dx.doi.org/10.1373/clinchem.2009.135947DOI Listing
March 2010

Failure to thrive: when to suspect inborn errors of metabolism.

Pediatrics 2009 Sep 10;124(3):972-9. Epub 2009 Aug 10.

Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2008-3724DOI Listing
September 2009

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

Mol Genet Metab 2008 Dec 30;95(4):206-12. Epub 2008 Oct 30.

Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 34th and Civic Boulevard 9S23, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.09.005DOI Listing
December 2008

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

Pediatrics 2008 Jul;122(1):210-1; author reply 211

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http://dx.doi.org/10.1542/peds.2008-0325DOI Listing
July 2008

Brain magnetic resonance imaging findings in 49,XXXXY syndrome.

Pediatr Neurol 2008 Jun;38(6):450-3

Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369151PMC
June 2008

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

Eur J Pediatr 2008 May 7;167(5):595-6. Epub 2007 Jun 7.

The Section of Biochemical Genetics and the Metabolic Research Laboratory, The Children's Hospital of Philadelphia, The Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00431-007-0520-1DOI Listing
May 2008

Review of miglustat for clinical management in Gaucher disease type 1.

Authors:
Can Ficicioglu

Ther Clin Risk Manag 2008 Apr;4(2):425-31

The Children's Hospital of Philadelphia, Section of Biochemical Genetics.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2504062PMC
http://dx.doi.org/10.2147/tcrm.s6865DOI Listing
April 2008

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

Pediatrics 2006 Dec;118(6):2555-6

Children's Hospital of Philadelphia, Section of Biochemical Genetics, 34th and Civic Center Boulevard, Main Building #9S20, Philadelphia, PA 19104, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2006-1659DOI Listing
December 2006

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

Mol Genet Metab 2006 Aug 5;88(4):322-6. Epub 2006 Jun 5.

Section of Metabolism, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2006.04.003DOI Listing
August 2006

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

Eur J Pediatr 2005 May 15;164(5):298-301. Epub 2005 Feb 15.

Section of Metabolism, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA.

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http://link.springer.com/10.1007/s00431-005-1629-8
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http://dx.doi.org/10.1007/s00431-005-1629-8DOI Listing
May 2005

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

Mol Genet Metab 2005 Feb 9;84(2):152-9. Epub 2004 Dec 9.

The Section of Biochemical Genetics and the Metabolic Research Laboratory, The Children's Hospital of Philadelphia, The Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.11.001DOI Listing
February 2005