P. Lonlay

发表

P.297 Two new cases of mitochondrial myopathy with exercise intolerance, lactic acidosis and cardiomyopathy, caused by recessive SLC25A4 mutations

J. Hogrel, P. Laforêt, C. Jardel, 2016, Neuromuscular Disorders.

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

A. Munnich, N. Boddaert, I. Desguerre, 2016, neurogenetics.

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

L. Pontual, N. Sellier, J. Bonnefont, 2010, European Journal of Pediatrics.

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

A. Munnich, F. Batteux, P. Niaudet, 2009, Pediatric Research.

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

N. Boddaert, J. Corral, V. Vicente, 2019, Journal of thrombosis and haemostasis : JTH.

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

A. Munnich, A. Chabli, C. Mellot‐Draznieks, 2013, Journal of Inherited Metabolic Disease.

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

N. Boddaert, F. Brunelle, M. Ribeiro, 2007, European Journal of Nuclear Medicine and Molecular Imaging.

Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency.

J. Benoit, A. Pruvost, S. Dézard, 2019, Nanomedicine.

Metabolic and cellular phenotype of AKT 2 hyperactiva on Constitutive activation of AKT 2 in humans leads to hypoglycemia without fatty liver or metabolic dyslipidemia

S. O’Rahilly, N. Wareham, Julie Harris, 2017 .

Hyperinsulinism of Infancy: Noninvasive Differential Diagnosis

N. Boddaert, F. Brunelle, M. Santiago-Ribeiro, 2006 .

in the Preoperative Localization of Focal Lesions in Congenital Hyperinsulinism 1

F. Brunelle, Y. Aigrain, F. Jaubert, 2009 .

Respiratory chain deficiency presenting as congenital nephrotic syndrome

A. Munnich, P. Rustin, A. Rötig, 2005, Pediatric Nephrology.

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.

normoglycaemia during management basis and the importance of maintaining Hyperinsulinaemic hypoglycaemia: biochemical

K. Hussain, H. Christesen, P. Lonlay, 2007 .

Mutations in SLC2A2 reveal hGLUT2 function in pancreatic ß cell development

M. Gall, A. Leturque, É. Brot-Laroche, 2013 .

Hyperinsulinism Due to Mutations of Uncoupling Protein 2

P. Lonlay, D. Ricquier, M. González-Barroso, 2012 .

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

A. Munnich, N. Boddaert, S. Lisgo, 2014, European Journal of Human Genetics.

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.

Unusual magnetic resonance imaging features in Menkes disease

N. Boddaert, O. Dulac, C. Barnérias, 2008, Brain and Development.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy ( ALDH 7 A 1 deficiency )

N. Marlow, W. Craigen, K. Mills, 2010 .

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

A. Munnich, N. Romero, F. Leturcq, 2001, Neuromuscular Disorders.

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

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

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

N. Boddaert, O. Dulac, F. Escande, 2008, Seizure.

Persistent Hyperinsulinemic Hypoglycemia

J. Saudubray, P. Lonlay, 2000 .

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 sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

A. Munnich, M. Durán, N. Boddaert, 2010, Journal of Inherited Metabolic Disease.

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.

Respiratory chain deficiency in a female with Aicardi‐Goutières syndrome

A. Munnich, L. Hertz-Pannier, N. Boddaert, 2006, Developmental medicine and child neurology.

Urgencias metabólicas neonatales

D. Rabier, P. Lonlay, P. Hubert, 2006 .

Barth Syndrome

P. Lonlay, D. Schlemmer, 2020, Definitions.

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

A. Munnich, A. Mamoune, S. Rahman, 2012, Journal of Inherited Metabolic Disease.

Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients

C. Stanley, D. Rabier, P. Kamoun, 2001, Pediatric Research.

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.

Inborn errors of metabolism underlying primary immunodeficiencies

J. Casanova, P. Quartier, P. Lonlay, 2014, Journal of Clinical Immunology.

Oligosaccharyltransferase subunits mutations in non-syndromic mental retardation

Stratton, J. Gécz, P. Futreal, 2007 .

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

G. Matthijs, R. Wevers, C. Thiel, 2016, Journal of Inherited Metabolic Disease.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

Relative Enzymatic Activity Levels from In Silico Mutagenesis.

A. Munnich, C. Mellot‐Draznieks, H. Toulhoat, 2012 .

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.

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

A. Brassier, P. Lonlay, P. Thérond, 2015, Journal of Inherited Metabolic Disease.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Yusuke Nakamura, Véronique Paquis-Flucklinger, Arnold Munnich, 2007, Nature Genetics.

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

A. Munnich, P. Rustin, A. Rötig, 2001, Nature Genetics.

Acute Psychosis in Propionic Acidemia

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

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.

Hyperinsulinism, Neonatal Hypoglycemia, New Mechanisms

M. Polak, P. Lonlay, V. Valayannopoulos, 2011 .

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

M. Polak, D. Rabier, J. Robert, 2008, European Journal of Pediatrics.

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.

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

A. Munnich, F. Foury, M. Koenig, 1997, Nature Genetics.

Acute rhabdomyolysis and inflammation

Y. Hamel, A. Mamoune, François-Xavier Mauvais, 2015, Journal of Inherited Metabolic Disease.

Lung involvement in children with lysinuric protein intolerance

C. Ottolenghi, P. Lonlay, J. Blic, 2015, Journal of Inherited Metabolic Disease.

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient

A. Couvineau, F. Mattioli, M. Schiff, 2018, Pediatric Research.

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.

Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred

N. Boddaert, G. Dellatolas, O. Dulac, 2013, Developmental medicine and child neurology.

Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ‐hydroxybutyric aciduria)

A. Munnich, D. Rabier, A. Philippe, 2004 .

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

A. Helenius, E. Berger, T. Hennet, 1999, Glycoconjugate Journal.

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate

S. Ferdinandusse, R. Wanders, B. Andresen, 2016, Journal of Inherited Metabolic Disease.

Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

L. Hertz-Pannier, F. Brunelle, P. Niaudet, 2006, Pediatric Radiology.

OP-BRAI190255 2948..2964

Nancy T. Malintan, M. Ryten, N. Boddaert, 2019 .

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

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2003, Human Genetics.

Syndrome de Smith-Lemli-Opitz

D. Rabier, C. Ottolenghi, P. Lonlay, 2013 .

D-2-Hydroxyglutaric aciduria: Further clinical delineation

M. Durán, M. Knaap, D. Rabier, 1999, Journal of Inherited Metabolic Disease.

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.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

E. Bertini, E. Schaftingen, G. Matthijs, 1998, American journal of human genetics.

B‐complex vitamins for patients with TANGO2‐deficiency disorder

S. Lalani, P. Lonlay, J. Meisner, 2022, Journal of inherited metabolic disease.

The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib.

P. de Lonlay, P. Lonlay, N. Seta, 2009, Biochimica et biophysica acta.

Molar Tooth Sign and Superior Vermian Dysplasia: A Radiological, Clinical, and Genetic Study

A. Munnich, D. Seidenwurm, N. Boddaert, 2006, Neuropediatrics.

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.

J. Saudubray, P. de Lonlay, G. Touati, 2001, Pediatrics.

Respiratory Chain Deficiency in Alpers Syndrome

A. Munnich, P. Rustin, A. Rötig, 2001, Neuropediatrics.

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

C. Junien, F. Brunelle, J. Saudubray, 1997, The Journal of clinical investigation.

Posterior fossa imaging in 158 children with ataxia.

A. Munnich, M. Zilbovicius, D. Seidenwurm, 2010, Journal of neuroradiology. Journal de neuroradiologie.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.

D. Rabier, J. Saudubray, P. Jouvet, 1999, Circulation.

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

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

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Thomas Meitinger, Nathalie Boddaert, Robert Barouki, 2017, American journal of human genetics.

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

A. Munnich, A. Rötig, C. Guillermet, 2012, Biochimica et biophysica acta.

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

C. Junien, F. Brunelle, J. Saudubray, 1998, The Journal of clinical investigation.

Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.

P. Codogno, V. Cormier-Daire, P. de Lonlay, 2000, Glycobiology.

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

C. Junien, F. Brunelle, J. Saudubray, 2001, The American journal of pathology.

Neurocognitive profiles in MSUD school-age patients

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

Development of liver disease despite mannose treatment in two patients with CDG-Ib.

P. de Lonlay, L. Galmiche, F. Jaubert, 2008, Molecular genetics and metabolism.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

L. Hertz-Pannier, P. Rustin, A. Rötig, 2003, Journal of medical genetics.

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

I. Gérin, E. Schaftingen, M. Veiga-da-Cunha, 1998, American journal of human genetics.

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

A. Munnich, P. Rustin, A. Rötig, 1998, American journal of human genetics.