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List of works by Vassili Valayannopoulos

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

scientific article

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

scientific article published on 22 July 2016

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

scientific article

Allo-immune membranous nephropathy and recombinant aryl sulfatase replacement therapy: a need for tolerance induction therapy

scientific article

Allogeneic bone marrow transplantation in mevalonic aciduria

scientific article

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

scientific article

Betaine anhydrous in homocystinuria: results from the RoCH registry

scientific article published on 14 March 2019

Cardiomyopathies in propionic aciduria are reversible after liver transplantation

scientific article published in January 2010

Clinical Effect And Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease ⬇️

scientific article published on March 28, 2013

Clinical and biochemical heterogeneity associated with fumarase deficiency ⬇️

scientific article published on July 12, 2011

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.

scientific article published on 19 August 2016

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

scientific article published on August 27, 2012

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

scientific article published on 03 October 2011

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

scientific article published on 12 December 2017

Creatine and guanidinoacetate reference values in a French population

scientific article published on 16 September 2013

Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

scientific article published on 30 November 2011

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

scientific article published on 12 April 2015

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

scientific article published on January 2013

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

scientific article published on 21 February 2014

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

scientific article

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study

scientific article

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

scientific article published on January 1, 2013

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

scientific article

Functional and electrophysiological characterization of four non‐truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome ⬇️

scientific article published on May 30, 2012

Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy

scientific article published in January 2007

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

scientific article published on 7 November 2013

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

scientific article published in February 2011

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

scientific article published in July 2010

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

scientific article published on 25 October 2010

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies

scientific article published on 17 May 2011

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

scientific article

Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

scientific article published on 10 May 2015

Lysosomal acid lipase deficiency: Expanding differential diagnosis

scientific article published on 10 November 2016

Management of West syndrome in a patient with methylmalonic aciduria

scientific article published on 21 August 2009

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C ⬇️

scientific article published on June 7, 2012

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

scientific article

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

scientific article

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

scientific article published on 18 June 2010

Mucopolysaccharidosis VI.

scientific article

Mucopolysaccharidosis type I and craniosynostosis

scientific article

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

scientific article

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

scientific article

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

scientific article published on 5 March 2008

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

scientific article published on 18 July 2012

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

scientific article

Nephrological abnormalities in patients with transaldolase deficiency

scientific article

Neurological aspects of hyperinsulinism-hyperammonaemia syndrome

scientific article

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

scientific article

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

scientific article published on 22 October 2015

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

scientific article

Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinism

scientific article published in October 2008

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

scientific article published on 23 November 2010

Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis

scientific article published in May 2008

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

scientific article published on 13 December 2012

Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients

scientific article published in December 2008

Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders

scientific article published in August 2010

Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet

scientific article published in December 2011

Suggested guidelines for the diagnosis and management of urea cycle disorders

scientific article

Synthesis and biological evaluation of new creatine fatty esters revealed dodecyl creatine ester as a promising drug candidate for the treatment of the creatine transporter deficiency

scientific article published on 7 June 2013

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

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

Therapy for the mucopolysaccharidoses ⬇️

scientific article published on December 1, 2011

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

scientific article

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

scientific article

Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?

scientific article published in February 2008

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

scientific article published on 10 June 2011

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

scientific article published on 03 October 2013

Type I hyperprolinemia: genotype/phenotype correlations

scientific article published in August 2010

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

scientific article published on 2 July 2016

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

scientific article published on 03 October 2007

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