D. Dobbelaere

发表

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

F. Sedel, P. Latour, H. Maurey, 2012, Orphanet Journal of Rare Diseases.

Creatine biosynthesis and transport in health and disease.

Gustavo Soto-Ares, G. Soto-Ares, D. Cheillan, 2015, Biochimie.

Betaine anhydrous in homocystinuria: results from the RoCH registry

V. Rigalleau, À. García‐Cazorla, M. Couce, 2019, Orphanet Journal of Rare Diseases.

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

S. Cederbaum, B. Burton, C. Harding, 2007, Journal of Inherited Metabolic Disease.

Creatine and guanidinoacetate reference values in a French population.

R. Delorme, F. Rivier, A. Afenjar, 2013, Molecular genetics and metabolism.

The French Gaucher’s disease registry: clinical characteristics, complications and treatment of 562 patients

F. Sedel, B. Grosbois, D. Hamroun, 2012, Orphanet Journal of Rare Diseases.

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)

A. Hartmann, B. Grosbois, R. Jaussaud, 2010, Journal of Inherited Metabolic Disease.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

M. Baumgartner, R. Hagendijk, B. Bembi, 2016, Orphanet Journal of Rare Diseases.

Familial hypercholesterolemia in childhood

M. Lambert, D. Dobbelaere, L. Ose, 2007 .

Efficacy and Safety of Statin Therapy in Children With Familial Hypercholesterolemia: A Randomized, Double-Blind, Placebo-Controlled Trial With Simvastatin

M. Mercuri, J. Kastelein, B. Gumbiner, 2002, Circulation.

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

J. Vamecq, S. Defoort, C. Dhaenens, 2022, Molecular genetics and metabolism reports.

Rise in brain GABA to further stress the metabolic link between valproate and creatine.

G. Briand, J. Vamecq, D. Dobbelaere, 2011, Molecular genetics and metabolism.

Endocrine manifestations related to inherited metabolic diseases in adults

J. Saudubray, J. Wemeau, M. Vantyghem, 2012, Orphanet Journal of Rare Diseases.

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

M. Baumgartner, S. Parker, A. Chakrapani, 2015, JIMD reports.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

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

G. Touati, A. Bourillon, M. Elmaleh‐Bergès, 2017, Journal of Inherited Metabolic Disease.

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

M. Rolland, D. Dobbelaere, P. Degand, 2000, Journal of Inherited Metabolic Disease.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.

F. Gottrand, J. Taanman, C. Jardel, 2005, Journal of hepatology.

Neonatal cholestasis and infantile Gaucher disease: a case report

F. Gottrand, D. Dobbelaere, L. Devisme, 2002, Acta paediatrica.

Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

J. Vamecq, F. Leclerc, D. Dobbelaere, 2015, Pharmaceuticals.

Hypoglycaemia related to inherited metabolic diseases in adults

J. Saudubray, J. Wemeau, M. Vantyghem, 2012, Orphanet Journal of Rare Diseases.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, N. Ah Mew, S. Kölker, 2018, Journal of inherited metabolic disease.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

H. Blom, Y. Chien, S. Grünert, 2016, Journal of Inherited Metabolic Disease.

Individual and family determinants for quality of life in parents of children with inborn errors of metabolism requiring a restricted diet: a multilevel analysis approach.

P. Auquier, N. Resseguier, P. de Lonlay, 2022, The Journal of pediatrics.

A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.

R. Favory, J. Cuisset, J. Vamecq, 2017, Analytical biochemistry.

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

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

G. Briand, J. Vamecq, D. Dobbelaere, 2012, JIMD reports.

Comparison of fluid balance and hemodynamic and metabolic effects of sodium lactate versus sodium bicarbonate versus 0.9% NaCl in porcine endotoxic shock: a randomized, open-label, controlled study

R. Favory, D. Mathieu, F. Pattou, 2017, Critical Care.

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21‐year, multicentre study of acute hyperammonaemic episodes

S. Brusilow, Brendan H. Lee, M. Summar, 2008, Acta paediatrica.

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

B. Andresen, D. Rabier, N. Gregersen, 2010, Orphanet journal of rare diseases.

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

G. Briand, J. Vamecq, D. Dobbelaere, 2017, Molecular genetics and metabolism.

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

M. Vidailhet, N. Boddaert, D. Devos, 2008, Movement disorders : official journal of the Movement Disorder Society.

Mise au point Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l ’ adulte Hypoglycemia and endocrine effects of adults ’ inborn errors of metabolism

M. Vantyghem, D. Dobbelaere, C. Douillard, 2009 .

NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

J. Sarles, M. Rolland, G. Touati, 2008, Journal of Inherited Metabolic Disease.

Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)

A. Hartmann, B. Grosbois, R. Jaussaud, 2011, Osteoporosis International.

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

C. Elie, P. de Lonlay, A. Brassier, 2016, Orphanet Journal of Rare Diseases.

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network

C. Vrinten, G. Ceccarini, A. Federico, 2020, Orphanet Journal of Rare Diseases.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria

F. Gottrand, S. Vanderbecken, L. Michaud, 2003, Journal of Inherited Metabolic Disease.

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

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Long term outcome of MPI‐CDG patients on D‐mannose therapy

P. de Lonlay, V. McLin, M. Schiff, 2020, Journal of inherited metabolic disease.

Comparison of biomarker for diagnosis of nitrous oxide abuse: challenge of cobalamin metabolic parameters, a retrospective study

C. Tard, D. Dobbelaere, P. Pigny, 2023, Journal of Neurology.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

M. Baumgartner, S. Kölker, R. Posset, 2018, Journal of inherited metabolic disease.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

C. Marelli, P. Gissen, Ç. Kasapkara, 2022, Life.

Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

F. Gottrand, L. Michaud, D. Turck, 2001, Archives of disease in childhood. Fetal and neonatal edition.

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

V. Valayannopoulos, E. Jacquemin, D. Dobbelaere, 2011, Molecular genetics and metabolism.

[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].

P. de Lonlay, D. Cheillan, G. Briand, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

H. Blom, S. Grünert, K. Kahrizi, 2016, Journal of Inherited Metabolic Disease.

Onset of psychiatric signs and impaired neurocognitive domains in inherited metabolic disorders: A case series

R. Jardri, D. Cohen, D. Dobbelaere, 2021, JIMD reports.

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

R. Jaussaud, W. Wuyts, M. Schiff, 2018, Molecular genetics and metabolism.

Gaucher disease and monoclonal gammopathy: a report of 17 cases and impact of therapy.

A. Hartmann, B. Grosbois, R. Jaussaud, 2009, Blood cells, molecules & diseases.

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

N. Gregersen, P. de Lonlay, M. Minot-Myhié, 2017, Clinica chimica acta; international journal of clinical chemistry.

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.

G. Briand, J. Vamecq, D. Dobbelaere, 2009, Clinica chimica acta; international journal of clinical chemistry.

A retrospective multicentric study on 34 patients with Niemann-Pick type C disease and early liver involvement in France.

A. Brassier, M. Schiff, B. Héron, 2022, The Journal of pediatrics.

From Phenomenology to Neurophysiological Understanding of Hallucinations in Children and Adolescents

J. Rapoport, J. Jenner, C. Fernyhough, 2014, Schizophrenia bulletin.

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

R. Delorme, F. Rivier, A. Afenjar, 2012, Orphanet Journal of Rare Diseases.

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.

F. Gottrand, L. Béghin, S. Coopman, 2016, Clinical nutrition.

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms

J. Jaeken, D. Dobbelaere, A. Klein, 2003, Journal of Inherited Metabolic Disease.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

A. Munnich, D. Rabier, J. Saudubray, 2011, Molecular genetics and metabolism.

First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study

J. Kluza, P. Marchetti, W. Laine, 2019, International journal of medical sciences.

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

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2].

F. Gottrand, G. Millat, M. Vanier, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane® (Sodium Phenylbutyrate) Taste-Masked Granules

A. Brassier, M. Barth, N. Guffon, 2014, Pediatric Drugs.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

P. Auquier, N. Resseguier, P. de Lonlay, 2021, The Journal of pediatrics.

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy

M. Lamblin, S. Sukno, D. Dobbelaere, 1998, Journal of Inherited Metabolic Disease.

Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry

D. Hamroun, B. Fantin, J. Stirnemann, 2020, International journal of molecular sciences.

Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.

P. Auquier, N. Resseguier, P. de Lonlay, 2020, Jornal de Pediatria.

Apolipoprotein B Arg3500Gln Mutation Prevalence in Children With Hypercholesterolemia: A French Multicenter Study

J. Sarles, O. Goulet, J. Girardet, 2001, Journal of pediatric gastroenterology and nutrition.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

M. Baumgartner, I. Harting, B. Plecko, 2022, Journal of inherited metabolic disease.

Doctor, my son is so tired... about a case of hereditary fructose intolerance.

J. Wemeau, M. Vantyghem, S. Marcelli-Tourvieille, 2007, Annales d'endocrinologie.

Methionine synthase deficiency: A rare cause of adult-onset leukoencephalopathy

P. Vermersch, V. Deramecourt, T. Stojkovic, 2012, Neurology.

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2012, The Cerebellum.

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report

L. Vallée, P. Latour, A. Trauffler, 2016, Journal of Medical Case Reports.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

N. Boddaert, A. Kaminska, A. Harroche, 2023, Molecular genetics and metabolism.

Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M).

F. Mochel, P. Jacquin, N. Belmatoug, 2018, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

F. Rivier, J. Lefranc, G. Touati, 2023, European journal of neurology.

Citrin deficiency: Does the reactivation of liver aralar-1 come into play and promote HCC development?

J. Vamecq, D. Dobbelaere, A. Dessein, 2021, Biochimie.

Spinocerebellar Ataxia: A Rational Approach to Aetiological Diagnosis

L. Defebvre, A. Destée, D. Devos, 2011, The Cerebellum.

Creatine biosynthesis and transport in health and disease.

D. Cheillan, J. Vamecq, D. Dobbelaere, 2015, Biochimie.

[Propranolol and lactatemia during hypovolemic shock: a case report].

J. Vamecq, F. Leclerc, D. Dobbelaere, 2015, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.

G. Briand, J. Vamecq, D. Dobbelaere, 2009, Clinica chimica acta; international journal of clinical chemistry.