Jolanta Sykut-Cegielska

Jolanta Sykut-Cegielska

UNVERIFIED PROFILE

Are you Jolanta Sykut-Cegielska?   Register this Author

Register author
Jolanta Sykut-Cegielska

Jolanta Sykut-Cegielska

Publications by authors named "Jolanta Sykut-Cegielska"

Are you Jolanta Sykut-Cegielska?   Register this Author

57Publications

2287Reads

40Profile Views

Difficulties in the dietary management of a girl with two diseases requiring a special diet.

Dev Period Med 2018;22(3):225-228

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.

View Article

Download full-text PDF

Source
September 2019

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
September 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Cardiol J 2017;24(1):101-104

Department of Pediatric Cardiology and Congenital Heart Defect, Medical University of Gdansk, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5603/CJ.2017.0009DOI Listing
May 2018

Congenital hyperinsulinism in Polish patients--how can we optimize clinical management?

Endokrynol Pol 2015 ;66(4):322-8

Medical University of Gdansk, Department and Clinic of Pediatrics, Diabetology and Endocrinology, Gdansk, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5603/EP.2015.0041DOI Listing
February 2017

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

Dev Period Med 2015 Oct-Dec;19(4):413-31

Medical Genetics Department, Institute of Mother and Child, ul. Kasprzaka 17a, 01-211, Warsaw, Poland, tel.(+48 22) 32-77-177, fax (+48 22) 32-77-200, e-mail:

View Article

Download full-text PDF

Source
May 2016

Advances in treatment of Rett syndrome.

Dev Period Med 2015 Oct-Dec;19(4):482-3

Screening Department Institute of Mother and Child, ul. Kasprzaka 17A, 01-211 Warsaw, tel. (+48 22) 32-77-375, fax: (+48 22) 32-77-375, e-mail:

View Article

Download full-text PDF

Source
May 2016

Alkaptonuria--first inborn error of metabolism known for a century and new treatment option--preliminary report.

Dev Period Med 2015 Oct-Dec;19(4):508-10

Screening Department, Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, tel. (+48 22) 32-77-375, fax: (+48 22) 32-77-375, e-mail:

View Article

Download full-text PDF

Source
May 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

WHY THE RARE DISEASES BECOME TO BE A CHALLENGE FOR MEDICINE OF TODAY?

Dev Period Med 2015 Oct-Dec;19(4):401-2

View Article

Download full-text PDF

Source
May 2016

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II.

Mol Genet Metab Rep 2016 Mar 18;6:5-7. Epub 2015 Dec 18.

Department of Paediatric Endocrinology and Diabetology, Pomeranian Medical University in Szczecin, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2015.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789339PMC
March 2016

Clinical Features of Lysosomal Acid Lipase Deficiency.

J Pediatr Gastroenterol Nutr 2015 Dec;61(6):619-25

*Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL †Department of Medicine, Addenbrooke's Hospital NHS Trust, Cambridge, UK ‡Medical Genetics Division, Stanford University, Stanford, CA §Department of Pediatrics, Regina Margherita Hospital, Turin, Italy ||Seattle Children's Hospital, Seattle, WA ¶Department of Vascular Medicine-Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands #New York-Presbyterian/Columbia University Medical Center, New York, NY **Department of Pediatrics, First Faculty of Medicine, Charles University, Prague, Czech Republic ††Departement de l'Enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneva, Switzerland ‡‡Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada §§Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute Genoa, Genova, Italy ||||Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK ¶¶Department of Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation, Salford, UK ##Screening Department, Institute of Mother and Child, Warsaw, Poland ***University of Minnesota, Minneapolis, MN †††Synageva BioPharma Corp, Lexington, MA ‡‡‡Hopital Necker-Enfants Malades, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959PMC
December 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9868-y
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.

Respir Physiol Neurobiol 2015 Apr 13;209:124-32. Epub 2014 Dec 13.

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, ul. Marszalkowska 24, 00-576 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.resp.2014.12.007DOI Listing
April 2015

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Mitochondrion 2013 Nov 26;13(6):810-6. Epub 2013 May 26.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2013.05.007DOI Listing
November 2013

Behavioral and intellectual functioning in patients with tyrosinemia type I.

Pediatr Endocrinol Diabetes Metab 2012 ;18(3):96-100

Department of Pediatrics and Neonatology Central Clinical Hospital of Ministry of Internal Affairs, Warsaw, Poland.

View Article

Download full-text PDF

Source
March 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

Med Princ Pract 2010 9;19(1):46-50. Epub 2009 Dec 9.

Department of Physiotherapy, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000252834DOI Listing
April 2010

Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.

Acta Biochim Pol 2009 8;56(4):613-8. Epub 2009 Dec 8.

Medical Faculty, University of Rzeszów, Poland.

View Article

Download full-text PDF

Source
February 2010

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Eur J Paediatr Neurol 2009 Mar 26;13(2):146-53. Epub 2008 Jun 26.

Department of Medical Genetics, Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2008.03.009DOI Listing
March 2009

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Mol Genet Metab 2008 Aug 3;94(4):435-42. Epub 2008 Jun 3.

Department of Metabolic Diseases, Endocrinology and Diabetology, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2008.04.013DOI Listing
August 2008

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

Mol Genet Metab 2008 Aug 20;94(4):481-4. Epub 2008 Jun 20.

Department of Pediatrics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2008.05.005DOI Listing
August 2008

[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children].

Rocz Panstw Zakl Hig 2007 ;58(1):95-101

Poradnia Zywieniowa, Klinika Pediatrii Instytut Pomnik-Centrum Zdrowia Dziecka, 04-730 Warszawa.

View Article

Download full-text PDF

Source
January 2008

[Maple Syrup Urine Disease in a newborn infant].

Med Wieku Rozwoj 2007 Jan-Mar;11(1):65-8

Oddział Dzieciecy, Szpital Wojewódzki nr 2, ul. Lwowska 60, 35-604 Rzeszów, Poland.

View Article

Download full-text PDF

Source
December 2007

Biochemical and clinical characteristics of creatine deficiency syndromes.

Acta Biochim Pol 2004 ;51(4):875-82

Division of Metabolic Diseases, Department of Pedatrics, Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/045104875DOI Listing
August 2005

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Med Sci Monit 2002 Nov;8(11):CR767-73

Department of Pathology, Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
November 2002