Vassili Valayannopoulos

Vassili Valayannopoulos

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Vassili Valayannopoulos

Publications by authors named "Vassili Valayannopoulos"

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Autism spectrum disorders in propionic acidemia patients.

J Inherit Metab Dis 2018 07 30;41(4):623-629. Epub 2017 Aug 30.

Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0070-2DOI Listing
July 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.

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

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

Mol Genet Metab 2017 Jan - Feb;120(1-2):62-66. Epub 2016 Nov 10.

Children's Hospital Research Foundation, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.11.002DOI Listing
August 2017

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.

Anal Chim Acta 2016 Sep 2;936:139-48. Epub 2016 Jul 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.aca.2016.06.054DOI Listing
September 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.

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

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

Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I.

Mol Genet Metab 2015 Dec 22;116(4):275-80. Epub 2015 Oct 22.

Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, Hôpital Necker Enfants-Malades, Paris, France; Paris Descartes University, Paris, France; Inserm U 955, Team 13, Créteil University, Paris XII, Créteil, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.10.004DOI Listing
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.

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

Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.

Orphanet J Rare Dis 2015 Apr 12;10:43. Epub 2015 Apr 12.

Centre de Référence Maladies Métaboliques de l'enfant et de l'adulte, Hôpital Universitaire Necker-Enfants Malades et Institut IMAGINE, Paris, France.

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http://www.ojrd.com/content/10/1/43
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http://dx.doi.org/10.1186/s13023-015-0259-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407793PMC
April 2015

Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency.

Nanomedicine (Lond) 2015 Jan 21;10(2):185-91. Epub 2014 Feb 21.

CEA, Direction des Sciences du Vivant, iBiTec-S, Service de Pharmacologie et d'Immuno Analyse, Equipe Pharmacologie Neurovasculaire, Gif-sur-Yvette, France.

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http://dx.doi.org/10.2217/nnm.13.205DOI Listing
January 2015

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Diagnostic work-up in acute conditions of inborn errors of metabolism and storage diseases.

Handb Clin Neurol 2013 ;113:1553-62

Reference Center for Inherited Metabolic Disease of Children and Adults, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00025-3DOI Listing
March 2014

Enzyme replacement therapy and substrate reduction therapy in lysosomal storage disorders with neurological expression.

Handb Clin Neurol 2013 ;113:1851-7

Reference Center for Inherited Metabolic Disease of Children and Adults, Hôpital Universitaire Necker-Enfants Malades, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00055-1DOI Listing
March 2014

Mucopolysaccharidosis type I and craniosynostosis.

Acta Neurochir (Wien) 2013 Oct 6;155(10):1973-6. Epub 2013 Aug 6.

Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France,

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http://dx.doi.org/10.1007/s00701-013-1831-9DOI Listing
October 2013

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.

Eur J Hum Genet 2013 Feb 18;21(2):195-9. Epub 2012 Jul 18.

INSERM U781, Département de Génétique et de Radiologie Pédiatrique, Fondation IMAGINE, Université Paris Descartes, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2012.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548256PMC
February 2013

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.

Dev Med Child Neurol 2012 Nov 27;54(11):1012-7. Epub 2012 Aug 27.

Neuropediatrics Department, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04400.xDOI Listing
November 2012

Nephrological abnormalities in patients with transaldolase deficiency.

Nephrol Dial Transplant 2012 Aug 17;27(8):3224-7. Epub 2012 Apr 17.

Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfs061DOI Listing
August 2012

Successful treatment of congenital hyperinsulinism with long-acting release octreotide.

Eur J Endocrinol 2012 Feb 2;166(2):333-9. Epub 2011 Nov 2.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, AP-HP, Université Paris Descartes, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1530/EJE-11-0874DOI Listing
February 2012

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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http://dx.doi.org/10.1007/s10545-011-9358-9DOI Listing
January 2012

Therapy for the mucopolysaccharidoses.

Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v49-59

Reference Centre for Inherited Metabolic Diseases, Necker-Enfants/Malades Hospital, Paris, France.

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http://dx.doi.org/10.1093/rheumatology/ker396DOI Listing
December 2011

Congenital hyperinsulinism: current trends in diagnosis and therapy.

Orphanet J Rare Dis 2011 Oct 3;6:63. Epub 2011 Oct 3.

Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et l'Adulte, AP-HP Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-6-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199232PMC
October 2011

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Eur J Endocrinol 2011 Feb 23;164(2):309-14. Epub 2010 Nov 23.

INSERM U845 Pediatric Endocrinology and Gynecology, Centre des Maladies Endocriniennes Rares de la Croissance, AP-HP, Necker-Enfants Malades Hospital, Université Paris Descartes, 75743 Paris, France.

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http://dx.doi.org/10.1530/EJE-10-0679DOI Listing
February 2011

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.

Genet Med 2011 Feb;13(2):102-9

Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318206786fDOI Listing
February 2011

Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

Eur J Pediatr 2010 Dec 27;169(12):1561-3. Epub 2010 Jul 27.

Service de Pédiatrie, Université Paris XIII, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Avenue du 14 Juillet, 93140 Bondy, France.

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http://dx.doi.org/10.1007/s00431-010-1261-0DOI Listing
December 2010

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

Biochim Biophys Acta 2010 Nov 18;1802(11):1028-35. Epub 2010 Jun 18.

Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117462PMC
November 2010

Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation.

Pediatrics 2010 Nov 25;126(5):e1242-7. Epub 2010 Oct 25.

Reference Center for Inherited Metabolic Disorders, Necker-Enfants Malades Hospital, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1542/peds.2009-2843DOI Listing
November 2010

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Mitochondrion 2010 Jun 1;10(4):335-41. Epub 2010 Mar 1.

Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.

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http://dx.doi.org/10.1016/j.mito.2010.02.006DOI Listing
June 2010

Mucopolysaccharidosis VI.

Orphanet J Rare Dis 2010 Apr 12;5. Epub 2010 Apr 12.

Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-5-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873242PMC
April 2010

Cardiomyopathies in propionic aciduria are reversible after liver transplantation.

J Pediatr 2010 Jan;156(1):128-34

Metabolic Unit and Reference Center of Metabolic Diseases, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2009.07.002DOI Listing
January 2010

Misleading behavioural phenotype with adenylosuccinate lyase deficiency.

Eur J Hum Genet 2009 Jan 1;17(1):133-6. Epub 2008 Oct 1.

Département de Pédiatrie, Hoôpital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2008.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985950PMC
January 2009

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.

Dev Med Child Neurol 2008 Dec;50(12):945-9

Department of Paediatric Neurology and Metabolic Diseases, Necker Children's Hospital, Paris V University, Paris, France.

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http://dx.doi.org/10.1111/j.1469-8749.2008.03114.xDOI Listing
December 2008

Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.

Seizure 2008 Oct 5;17(7):658-64. Epub 2008 Mar 5.

Service de Neurologie Pediatrique et Maladies Metaboliques, Departement de Pediatrie, Hopital Necker Enfants Malades, AP-HP, Université Paris Descartes, Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S105913110800033
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http://dx.doi.org/10.1016/j.seizure.2008.01.005DOI Listing
October 2008

What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

Eur J Pediatr 2008 Mar 3;167(3):257-65. Epub 2007 Oct 3.

Metabolic Department and Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, 149, Rue des Sèvres, 75015 Paris, France,

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http://dx.doi.org/10.1007/s00431-007-0600-2DOI Listing
March 2008

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children.

Eur J Nucl Med Mol Imaging 2007 Dec 28;34(12):2120-8. Epub 2007 Jul 28.

Biomedical Imaging Institute, Life Sciences Division, Commissariat à l'Energie Atomique, Frédéric Joliot Hospital, 4 place du Général Leclerc, Orsay, France.

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http://dx.doi.org/10.1007/s00259-007-0498-yDOI Listing
December 2007

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

J Pediatr 2006 Nov;149(5):713-7

Metabolic Unit, Necker-Enfants Malades Hospital and the Fetopathology Department, Saint Antoine Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2006.08.016DOI Listing
November 2006