J. Arnoux

发表

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

Yves, C. Sempoux, M. Ribeiro, 2010, Journal of Medical Genetics.

mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.

A. Stevens, P. de Lonlay, I. Banerjee, 2016, The Journal of clinical endocrinology and metabolism.

Congenital hyperinsulinism: current trends in diagnosis and therapy

F. Brunelle, C. Bellanné-Chantelot, Y. Aigrain, 2011, Orphanet journal of rare diseases.

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

A. Munnich, N. Boddaert, A. Rötig, 2010, Mitochondrion.

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

J. Gueant, C. Chéry, S. Odent, 2015, Orphanet Journal of Rare Diseases.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles

L. Christa, C. Barnérias, I. Desguerre, 2018, Journal of Inherited Metabolic Disease.

Long-term renal outcome in methylmalonic acidemia in adolescents and adults

F. Bienaimé, A. Servais, P. de Lonlay, 2021, Orphanet Journal of Rare Diseases.

Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error

P. de Lonlay, A. Brassier, S. Renolleau, 2020, JIMD reports.

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria

J. Jarvis, A. Zatkova, L. Ranganath, 2020, Journal of inherited metabolic disease.

A unique CD8(+) T lymphocyte signature in pediatric type 1 diabetes.

P. van Endert, Y. Hamel, A. Hartemann, 2016, Journal of autoimmunity.

High glucose intake and glycaemic level in critically ill neonates with inherited metabolic disorders of intoxication

A. Brassier, P. Lonlay, J. Arnoux, 2016, European Journal of Pediatrics.

Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families

S. Weinzimer, D. Kendall, I. Banerjee, 2022, Orphanet Journal of Rare Diseases.

Medical Management of Hyperinsulinism

K. Hussain, T. Meissner, J. Arnoux, 2019, Congenital Hyperinsulinism.

KATP channel mutations in congenital hyperinsulinism.

C. Bellanné-Chantelot, P. de Lonlay, C. Saint-Martin, 2011, Seminars in pediatric surgery.

Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study

J. Kane, M. Balwani, C. Whitley, 2020, Liver international : official journal of the International Association for the Study of the Liver.

Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria

George Bou-Gharios, A. Milan, R. Imrich, 2022, Scientific Reports.

Molecular Mechanisms and Clinical Pathophysiologies of Focal ATP-Sensitive Potassium Channel Hyperinsulinism and Beckwith-Wiedemann Syndrome

Y. Aigrain, P. Lonlay, S. Rossignol, 2012 .

Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia.

L. Christa, P. de Lonlay, G. Simard, 2013, The Journal of clinical endocrinology and metabolism.

Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study

A. Servais, P. de Lonlay, A. Brassier, 2022, Orphanet Journal of Rare Diseases.

Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.

N. Boddaert, A. Kaminska, B. Chadefaux-Vekemans, 2020, Molecular genetics and metabolism.

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

P. de Lonlay, A. Brassier, J. Arnoux, 2021, Orphanet Journal of Rare Diseases.

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.

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

D. Rabier, F. Petit, C. Ottolenghi, 2011, Pediatric Research.

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12

A. Munnich, A. Rötig, D. Rabier, 2009, Journal of Inherited Metabolic Disease.

Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

V. Rigalleau, C. Moreau, F. Mochel, 2021, Journal of inherited metabolic disease.

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

R. Barouki, A. Servais, P. de Lonlay, 2015, Orphanet Journal of Rare Diseases.

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.

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

A. Rötig, P. de Lonlay, F. Mingozzi, 2022, Nature Communications.

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

A. Laquérriere, P. de Lonlay, J. Bergounioux, 2012, The Journal of pediatrics.

[Enzyme replacement therapy for lysosomal storage disorders].

A. Chabli, P. de Lonlay, A. Brassier, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.

A. Munnich, N. Boddaert, F. Brunelle, 2008, Molecular genetics and metabolism.

Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture

D. Rabier, A. Servais, C. Ottolenghi, 2013, Journal of Inherited Metabolic Disease.

Autism spectrum disorders in propionic acidemia patients

L. Ouss, A. Brassier, J. Bonnefont, 2018, Journal of Inherited Metabolic Disease.

Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

R. Barouki, B. Chadefaux-Vekemans, P. de Lonlay, 2015, JIMD reports.

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

C. Moreau, D. Cheillan, F. Labarthe, 2023, International journal of neonatal screening.

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.

Acute Psychosis in Propionic Acidemia

G. Touati, A. Brassier, C. Ottolenghi, 2014, Journal of child neurology.

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

N. Boddaert, D. Rabier, I. Desguerre, 2013, Orphanet Journal of Rare Diseases.

Management of 35 critically ill hyperammonemic neonates: Role of early administration of metabolite scavengers and continuous hemodialysis.

S. Marret, P. de Lonlay, A. Brassier, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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.

Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort

A. Servais, P. de Lonlay, B. Pigneur, 2020, Molecular genetics and metabolism reports.

Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.

R. Salomon, A. Servais, P. de Lonlay, 2017, Human pathology.

Syndromic Causes of Congenital Hyperinsulinism

J. Kalish, J. Arnoux, 2019, Congenital Hyperinsulinism.

An update on congenital hyperinsulinism: advances in diagnosis and management

C. Bellanné-Chantelot, K. Hussain, Y. Aigrain, 2014 .

OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort

A. Munnich, F. Reyal, J. Steffann, 2021, Journal of inherited metabolic disease.

Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort

A. Servais, G. Touati, A. Brassier, 2021, Molecular genetics and metabolism reports.

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

B. Chadefaux-Vekemans, A. Servais, P. de Lonlay, 2017, Journal of Inherited Metabolic Disease.

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Human mutation.

Congenital hyperinsulinism

C. Sempoux, F. Brunelle, M. Ribeiro, 2014 .

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism

T. Frebourg, C. Bellanné-Chantelot, S. Shyng, 2021, Human mutation.

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

G. Pinto, A. Servais, P. de Lonlay, 2017, Orphanet Journal of Rare Diseases.

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

J. Gargus, S. Eckert, A. Brassier, 2017, Orphanet Journal of Rare Diseases.

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency

J. Gargus, S. Eckert, A. Brassier, 2015 .

ZnT8 Is a Major CD8+ T Cell–Recognized Autoantigen in Pediatric Type 1 Diabetes

P. van Endert, Y. Hamel, L. Chatenoud, 2012, Diabetes.

Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.

D. Rabier, P. de Lonlay, A. Brassier, 2013, Molecular genetics and metabolism.

Long‐term outcome of methylmalonic aciduria after kidney, liver, or combined liver‐kidney transplantation: The French experience

R. Salomon, F. Mochel, Y. Aigrain, 2020, Journal of inherited metabolic disease.

Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.

R. Salomon, D. Rabier, Y. Aigrain, 2013, Molecular genetics and metabolism.

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

J. Thalabard, A. Mamoune, C. Bellanné-Chantelot, 2012, European journal of endocrinology.

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

F. Brunelle, G. Velho, J. Saudubray, 2012, Diabetes Care.

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

C. Chéry, A. Oussalah, S. Odent, 2020, EBioMedicine.

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

L. Ranganath, R. Imrich, J. Rovenský, 2022, RMD Open.

Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.

J. Jarvis, L. Ranganath, B. Olsson, 2020, The lancet. Diabetes & endocrinology.

Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies

B. Marzocchi, L. Ranganath, D. Giustarini, 2022, Cells.

Strengths and limitations of using 18fluorine-fluorodihydroxyphenylalanine PET/CT for congenital hyperinsulinism

M. Ribeiro, J. Talbot, C. Bellanné-Chantelot, 2014, Expert review of endocrinology & metabolism.

What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children.

P. de Lonlay, A. Brassier, S. Renolleau, 2022, Molecular genetics and metabolism.

Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

R. Posset, A. Servais, P. de Lonlay, 2021, JIMD reports.

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

P. de Lonlay, M. Tajir, J. Arnoux, 2012, European journal of medical genetics.

Richner-Hanhart syndrome (tyrosinemia type II).

F. Aubin, J. Arnoux, D. Blanc, 2017, Cutis.

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.

Monoallelic ABCC8 mutations are a common cause of diazoxide‐unresponsive diffuse form of congenital hyperinsulinism

C. Bellanné-Chantelot, S. Shyng, P. de Lonlay, 2015, Clinical genetics.

Update of variants identified in the pancreatic β-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Yearbook of Paediatric Endocrinology.

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.

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.

Short running title: "Hyperinsulinism treated with LAR octreotide"

A. Mamoune, A. Brassier, J. Arnoux, 2011 .

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

L. Ranganath, R. Imrich, J. Arnoux, 2022, JIMD reports.

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

A. Imbard, P. de Lonlay, A. Brassier, 2022, Molecular genetics and metabolism reports.

Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

B. Olsson, A. Milan, R. Imrich, 2021, JIMD reports.

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria

A. Servais, P. de Lonlay, L. Ranganath, 2015, Journal of Inherited Metabolic Disease.

Health status and comorbidities of adult patients with phenylketonuria (PKU) in France with a focus on early-diagnosed patients - A nationwide study of health insurance claims data.

F. Maillot, J. Arnoux, S. Bouée, 2023, Molecular genetics and metabolism.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

N. Stence, K. Haldar, M. Ugarte, 2022, Human molecular genetics.

Congenital hyperinsulinism.

C. Sempoux, F. Brunelle, M. Ribeiro, 2010, Early human development.

Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin‐1‐deficient patients

P. de Lonlay, A. Brassier, S. Renolleau, 2023, Journal of inherited metabolic disease.

Neurocognitive profiles in MSUD school-age patients

G. Touati, A. Brassier, A. Cano, 2017, Journal of Inherited Metabolic Disease.

Richner-Hanhart syndrome (tyrosinemia type II).

F. Aubin, J. Arnoux, D. Blanc, 2017, Cutis.

[Enzyme replacement therapy for lysosomal storage disorders].

A. Chabli, A. Brassier, J. Arnoux, 2011, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.

J. Arnoux, V. Malan, Pauline Marzin, 2023, European journal of medical genetics.

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

C. Sempoux, F. Jaubert, V. Verkarre, 2010, Journal of Medical Genetics.

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

A. Laquérriere, P. de Lonlay, J. Bergounioux, 2012, The Journal of pediatrics.

Health status and comorbidities of adult patients with late-diagnosed phenylketonuria (PKU) born before the newborn screening in France - A nationwide study of health insurance claims data.

J. Arnoux, K. M. Schneider, S. Charrière, 2023, Molecular genetics and metabolism.

International Guidelines for the Diagnosis and Management of Hyperinsulinism

C. Stanley, A. Vella, S. Flanagan, 2023, Hormone Research in Paediatrics.

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

A. Brassier, M. Aubart, Charles-Joris Roux, 2024, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Successful treatment of severe MSUD in Bckdhb−/− mice with neonatal AAV gene therapy

A. Rötig, P. de Lonlay, A. Brassier, 2023, Journal of inherited metabolic disease.