P. Lonlay

发表

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

P. Froguel, M. Polak, M. Vaxillaire, 2009, Diabetologia.

Dominantly inherited hyperinsulinaemic hypoglycaemia

C. Stanley, C. Sempoux, F. Brunelle, 2005, Journal of Inherited Metabolic Disease.

Increased paternal age in CHARGE association

A. Munnich, N. Philip, D. Lacombe, 1996, Clinical genetics.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Recognition and management of fatty acid oxidation defects: A series of 107 patients

D. Rabier, P. Kamoun, J. Saudubray, 1999, Journal of Inherited Metabolic Disease.

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

C. Junien, C. Sempoux, F. Brunelle, 2005, Journal of Medical Genetics.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

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

Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy.

C. Sempoux, C. Bellanné-Chantelot, Y. Aigrain, 2011, The Journal of clinical endocrinology and metabolism.

The surgical management of congenital hyperinsulinemic hypoglycemia in infancy.

F. Brunelle, J. Saudubray, P. de Lonlay, 2004, Journal of pediatric surgery.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A. Munnich, D. Galanaud, N. Boddaert, 2010, Journal of Medical Genetics.

Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies

A. Munnich, L. Iserin, S. Lyonnet, 1998, European Journal of Pediatrics.

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

A. Munnich, P. Rustin, A. Rötig, 1999, European Journal of Pediatrics.

Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients

P. Rustin, P. de Lonlay, G. Touati, 2005, Pediatrics.

Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.

O. Boespflug-Tanguy, P. de Lonlay, A. Slama, 2017, 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.

Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

D. Rabier, P. Kamoun, J. Saudubray, 2000, Journal of Inherited Metabolic Disease.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

A. Imbard, C. Barnérias, J. Saudubray, 2011, Molecular genetics and metabolism.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

C. Barnérias, J. Saudubray, M. Miné, 2011, Molecular genetics and metabolism.

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.

Two new cases of serine deficiency disorders treated with l-serine.

E. Schaftingen, A. Brassier, V. Valayannopoulos, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.

G. Matthijs, G. Ponsot, V. Cormier-Daire, 2003, Neuropediatrics.

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

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

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.

C. Guyot, D. Chrétien, Y. Keyzer, 2008, Molecular genetics and metabolism.

[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.

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.

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

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

Efficiency of metabolic screening in childhood cardiomyopathies.

P. Rustin, A. Rötig, I. Gautier, 1998, European heart journal.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

L. Christa, C. Corne, M. Milh, 2016, JIMD Reports.

Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.

A. Munnich, L. Christa, D. Bonneau, 2012, JIMD reports.

Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

L. Christa, C. Corne, M. Milh, 2016, JIMD reports.

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

C. Bellanné-Chantelot, Y. Aigrain, P. de Lonlay, 2008, The Journal of clinical endocrinology and metabolism.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

A. Munnich, N. Boddaert, F. Brunelle, 2014, Journal of Medical Genetics.

Hyperinsulinaemic Hypoglycaemia

K. Hussain, P. de Lonlay, O. Blankenstein, 2014, Hormone and Metabolic Research.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

D. Galanaud, N. Boddaert, A. Rötig, 2010, Journal of Medical Genetics.