P. de Lonlay
发表
C. V. van Karnebeek,
S. Santra,
J. Häberle,
2016,
Genetics in Medicine.
N. Romero,
J. Hogrel,
P. Laforêt,
2017,
Mitochondrion.
Yves,
C. Sempoux,
M. Ribeiro,
2010,
Journal of Medical Genetics.
U. Engelke,
L. Kluijtmans,
R. Wevers,
2010,
Biochimica et biophysica acta.
A. Stevens,
P. de Lonlay,
I. Banerjee,
2016,
The Journal of clinical endocrinology and metabolism.
F. Brunelle,
C. Bellanné-Chantelot,
Y. Aigrain,
2011,
Orphanet journal of rare diseases.
P. de Lonlay,
M. Najimi,
E. Sokal,
2013,
JIMD reports.
J. Jais,
Y. Hamel,
François-Xavier Mauvais,
2018,
Molecular genetics and metabolism.
E. Bertini,
A. Montpetit,
R. Carrozzo,
2013,
Brain : a journal of neurology.
O. Dulac,
C. Chiron,
R. Nabbout,
2006,
Epilepsia.
C. Junien,
F. Brunelle,
J. Saudubray,
2001,
The American journal of pathology.
C. Junien,
F. Brunelle,
J. Saudubray,
1997,
The Journal of clinical investigation.
A. Munnich,
E. Génin,
E. Westhof,
2012,
Proceedings of the National Academy of Sciences.
P. Niaudet,
P. de Lonlay,
H. Debiec,
2014,
Journal of the American Society of Nephrology : JASN.
A. Munnich,
N. Boddaert,
F. Brunelle,
2014,
Journal of Medical Genetics.
A. Munnich,
N. Boddaert,
F. Brunelle,
2014,
Revue neurologique.
A. Munnich,
N. Boddaert,
A. Rötig,
2010,
Mitochondrion.
A. Munnich,
P. Rustin,
A. Rötig,
1999,
European Journal of Pediatrics.
Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
A. Forrest,
G. Ravenscroft,
N. Laing,
2021,
bioRxiv.
E. Martins,
A. Harroche,
P. Witters,
2020,
Journal of Inherited Metabolic Disease.
E. Bertini,
E. Schaftingen,
G. Matthijs,
1998,
American journal of human genetics.
A. Munnich,
F. Brunelle,
P. Rustin,
2003,
The Journal of pediatrics.
P. de Lonlay,
A. Brassier,
N. Bahi-Buisson,
2019,
Molecular genetics and metabolism.
F. Rivier,
R. Touraine,
A. Chabli,
2013,
Orphanet Journal of Rare Diseases.
A. Munnich,
A. Rötig,
D. Bacq,
2007,
The Journal of clinical investigation.
L. Christa,
C. Barnérias,
I. Desguerre,
2018,
Journal of Inherited Metabolic Disease.
A. Munnich,
N. Boddaert,
A. Rötig,
2012,
American journal of human genetics.
I. Durand-zaleski,
M. Moro,
P. de Lonlay,
2019,
BMJ Open.
F. Bienaimé,
A. Servais,
P. de Lonlay,
2021,
Orphanet Journal of Rare Diseases.
P. de Lonlay,
A. Brassier,
S. Renolleau,
2020,
JIMD reports.
J. Benoit,
C. Passirani,
P. de Lonlay,
2015,
Nanomedicine.
P. de Lonlay,
S. Dézard,
F. Taran,
2013,
Journal of medicinal chemistry.
F. Sedel,
D. Seidenwurm,
N. Boddaert,
2009,
Molecular genetics and metabolism.
C. Bodemer,
C. Wouters,
Y. Crow,
2021,
bioRxiv.
C. Bodemer,
C. Wouters,
Y. Crow,
2021,
The Journal of experimental medicine.
V. Gnemmi,
P. de Lonlay,
P. Garred,
2020,
Kidney international.
H. Perdry,
G. Dellatolas,
O. Dulac,
2012,
Developmental medicine and child neurology.
P. van Endert,
Y. Hamel,
A. Hartemann,
2016,
Journal of autoimmunity.
P. Codogno,
V. Cormier-Daire,
P. de Lonlay,
2000,
Glycobiology.
S. O’Rahilly,
N. Wareham,
Julie Harris,
2017,
The Journal of clinical endocrinology and metabolism.
I. Barroso,
F. Payne,
D. Savage,
2011,
Science.
M. Polak,
N. Boddaert,
A. Brice,
2017,
Journal of Medical Genetics.
O. Danos,
B. Bader-Meunier,
P. de Lonlay,
2010,
PloS one.
F. Brunelle,
M. Ribeiro,
Y. Aigrain,
2009,
Radiology.
A. Munnich,
D. Galanaud,
N. Boddaert,
2010,
Journal of Medical Genetics.
A. Munnich,
A. Rötig,
P. de Lonlay,
2012,
Journal of hepatology.
H. Freeze,
G. Matthijs,
A. Ribes,
2021,
American Journal of Human Genetics.
D. Zafeiriou,
B. Weschke,
A. Mégarbané,
2010,
Brain : a journal of neurology.
M. Polak,
D. Kariyawasam,
P. Touraine,
2021,
Endocrine connections.
D. Rabier,
P. Kamoun,
J. Saudubray,
1999,
Journal of Inherited Metabolic Disease.
P. Bénit,
P. Rustin,
T. Langer,
2018,
The EMBO journal.
K. Hussain,
H. Christesen,
P. de Lonlay,
2007,
Archives of Disease in Childhood.
P. Czernichow,
P. de Lonlay,
N. Tubiana-Rufi,
1996,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
N. Boddaert,
A. Rötig,
2018,
Journal of Medical Genetics.
M. Baumgartner,
D. Rizopoulos,
Y. Chien,
2019,
Molecular genetics and metabolism.
C. Bellanné-Chantelot,
P. de Lonlay,
C. Saint-Martin,
2011,
Seminars in pediatric surgery.
C. Sempoux,
C. Bellanné-Chantelot,
P. de Lonlay,
2011,
The Journal of clinical investigation.
C. Stanley,
C. Sempoux,
F. Brunelle,
2004,
The Journal of clinical endocrinology and metabolism.
L. Ouss,
N. Bouchemal,
L. Le Moyec,
2019,
Orphanet journal of rare diseases.
M. Patterson,
H. Plotkin,
Christina Lam,
2021,
Molecular genetics and metabolism.
J. Saudubray,
P. de Lonlay,
G. Touati,
2002,
Seminars in neonatology : SN.
D. Seidenwurm,
M. Polak,
N. Boddaert,
2006,
Journal of Clinical Endocrinology and Metabolism.
C. Sempoux,
F. Brunelle,
F. Mochel,
2005,
Pediatrics.
P. de Lonlay,
A. Brassier,
N. Bahi-Buisson,
2018,
JIMD reports.
A. Imbard,
C. Barnérias,
J. Saudubray,
2011,
Molecular genetics and metabolism.
M. Tuchman,
M. Baumgartner,
S. Waisbren,
2020,
Scientific Reports.
C. Férec,
I. Desguerre,
Jian-Min Chen,
2007,
Human mutation.
N. Marlow,
W. Craigen,
K. Mills,
2010,
Brain : a journal of neurology.
H. Freeze,
M. Patterson,
Christina Lam,
2019,
Journal of inherited metabolic disease.
A. Fischer,
M. Cavazzana‐Calvo,
L. Cuisset,
2007,
The New England journal of medicine.
S. Marret,
P. de Lonlay,
A. Brassier,
2017,
Clinica chimica acta; international journal of clinical chemistry.
N. Boddaert,
A. Kaminska,
J. Pedespan,
2015,
European journal of medical genetics.
R. Houtkooper,
Ann Saada,
A. Shaag,
2008,
American journal of human genetics.
C. Stoll,
R. Wevers,
J. Launay,
2000,
Journal of Inherited Metabolic Disease.
A. Munnich,
N. Boddaert,
A. Rötig,
2008,
American journal of human genetics.
A. Munnich,
D. Seidenwurm,
N. Boddaert,
2006,
Neuropediatrics.
P. de Lonlay,
M. le Merrer,
I. Giurgea,
2005,
Pediatric neurology.
L. Christa,
P. de Lonlay,
G. Simard,
2013,
The Journal of clinical endocrinology and metabolism.
M. Baumgartner,
N. Ah Mew,
S. Kölker,
2018,
Journal of inherited metabolic disease.
G. Hoffmann,
J. Häberle,
A. Burlina,
2016,
Orphanet Journal of Rare Diseases.
A. Servais,
P. de Lonlay,
A. Brassier,
2022,
Orphanet Journal of Rare Diseases.
A. Poujois,
F. Woimant,
J. Selves,
2018,
Molecular genetics and metabolism.
N. Boddaert,
A. Kaminska,
B. Chadefaux-Vekemans,
2020,
Molecular genetics and metabolism.
C. Bellanné-Chantelot,
O. Dulac,
C. Chiron,
2007,
Journal of child neurology.
D. Rabier,
P. Kamoun,
J. Saudubray,
2000,
Journal of Inherited Metabolic Disease.
Loss of Imprinted Genes and Paternal SUR1 Mutations Lead to Focal Form of Congenital Hyperinsulinism
C. Junien,
F. Brunelle,
J. Saudubray,
2000,
Hormone Research in Paediatrics.
C. Junien,
F. Brunelle,
J. Saudubray,
1998,
Annales d'endocrinologie.
P. de Lonlay,
A. Brassier,
J. Arnoux,
2021,
Orphanet Journal of Rare Diseases.
C. Sempoux,
F. Brunelle,
C. Bellanné-Chantelot,
2006,
Hormone Research in Paediatrics.
F. Brunelle,
J. Saudubray,
P. de Lonlay,
2004,
Journal of pediatric surgery.
C. Junien,
F. Brunelle,
J. Saudubray,
2002,
American journal of medical genetics.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2022,
The Journal of pediatrics.
A. Chakrapani,
M. Preece,
P. de Lonlay,
2015,
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.
D. Rabier,
P. de Lonlay,
G. Touati,
2010,
The Journal of pediatrics.
N. Boddaert,
R. Barouki,
L. Le Moyec,
2014,
Molecular genetics and metabolism reports.
J. Saudubray,
P. de Lonlay,
G. Touati,
2001,
Pediatrics.
A. Benabid,
M. Polak,
N. Boddaert,
2009,
Journal of neurosurgery. Pediatrics.
P. van Endert,
A. Imbard,
P. Laforêt,
2022,
Neurology: Genetics.
O. Boespflug-Tanguy,
P. de Lonlay,
A. Slama,
2017,
Molecular genetics and metabolism.
J. Casanova,
Y. Hamel,
A. Mamoune,
2014,
PLoS genetics.
C. Sardet,
N. Boddaert,
P. de Lonlay,
2014,
Mitochondrion.
C. Sardet,
N. Boddaert,
Y. Hamel,
2013,
Orphanet Journal of Rare Diseases.
A. Munnich,
A. Rötig,
C. Guillermet,
2012,
Biochimica et biophysica acta.
A. Munnich,
M. Polak,
A. Rötig,
2008,
Molecular genetics and metabolism.
A. Munnich,
A. Rötig,
V. Cormier-Daire,
2007,
The Journal of pediatrics.
P. Rustin,
À. García‐Cazorla,
D. Rabier,
2006,
The Journal of pediatrics.
A. Munnich,
P. Rustin,
A. Rötig,
2005,
Molecular genetics and metabolism.
A. Munnich,
P. Rustin,
A. Rötig,
1998,
American journal of human genetics.
A. Munnich,
D. Seidenwurm,
N. Boddaert,
2008,
Molecular genetics and metabolism.
S. Ellard,
M. Ribeiro,
C. Bellanné-Chantelot,
2010,
The Journal of clinical endocrinology and metabolism.
À. García‐Cazorla,
D. Rabier,
B. Chadefaux-Vekemans,
2006,
Annals of neurology.
Y. Hamel,
M. Alfò,
P. de Lonlay,
2017,
Journal of Lipid Research.
A. Munnich,
P. Rustin,
S. Lyonnet,
1998,
American journal of medical genetics.
A. Munnich,
L. Iserin,
S. Lyonnet,
1998,
European Journal of Pediatrics.
C. Junien,
C. Sempoux,
K. Dahan,
2003,
Diabetes.
J. Saudubray,
P. de Lonlay,
G. Touati,
2002,
Seminars in neonatology : SN.
I. Gérin,
E. Schaftingen,
M. Veiga-da-Cunha,
1998,
American journal of human genetics.
R. Barouki,
A. Servais,
P. de Lonlay,
2015,
Orphanet Journal of Rare Diseases.
T. Maisonobe,
P. Laforêt,
P. de Lonlay,
2020,
Revue neurologique.
A. Munnich,
P. Rustin,
A. Rötig,
2009,
Bulletin de l'Academie nationale de medecine.
A. Rötig,
P. de Lonlay,
F. Mingozzi,
2022,
Nature Communications.
P. de Lonlay,
S. Esposito,
N. Principi,
2015,
Vaccine.
A. Laquérriere,
P. de Lonlay,
J. Bergounioux,
2012,
The Journal of pediatrics.
A. Chabli,
P. de Lonlay,
A. Brassier,
2011,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
N. Boddaert,
F. Brunelle,
2008,
Molecular genetics and metabolism.
A. Fischer,
A. Munnich,
A. Rötig,
2009,
European journal of medical genetics.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human Mutation.
A. Munnich,
N. Boddaert,
T. Frebourg,
2011,
Human mutation.
C. Roe,
J. Saudubray,
P. de Lonlay,
2000,
European Journal of Pediatrics.
A. Munnich,
S. Lyonnet,
D. Rabier,
1999,
American journal of medical genetics.
P. de Lonlay,
J. Maizel,
J. Bouchereau,
2019,
Case reports in critical care.
R. Barouki,
B. Chadefaux-Vekemans,
P. de Lonlay,
2015,
JIMD reports.
N. Boddaert,
P. Sonigo,
B. Chadefaux-Vekemans,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. de Lonlay,
G. Touati,
A. Brassier,
2021,
Journal of inherited metabolic disease.
R. Lachmann,
A. Servais,
P. de Lonlay,
2022,
Journal of inherited metabolic disease.
O. Dulac,
G. Ponsot,
C. Barnérias,
2010,
Developmental medicine and child neurology.
J. Souberbielle,
D. Rabier,
J. Saudubray,
2006,
Journal of Inherited Metabolic Disease.
N. Boddaert,
S. Pannier,
D. Lacombe,
2022,
Bone Marrow Transplantation.
Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation
A. Fischer,
N. Mahlaoui,
P. de Lonlay,
2010,
Pediatrics.
C. Elie,
P. de Lonlay,
A. Brassier,
2016,
Orphanet Journal of Rare Diseases.
C. Vrinten,
G. Ceccarini,
A. Federico,
2020,
Orphanet Journal of Rare Diseases.
A. Munnich,
N. Boddaert,
A. Rötig,
2009,
Molecular genetics and metabolism.
M. Ducreux,
P. de Lonlay,
A. Hollebecque,
2019,
Anti-cancer drugs.
N. Boddaert,
D. Rabier,
I. Desguerre,
2013,
Orphanet Journal of Rare Diseases.
N. Boddaert,
Y. Péréon,
A. Kaminska,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
S. Marret,
P. de Lonlay,
A. Brassier,
2020,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
J. Saudubray,
P. de Lonlay,
G. Touati,
1998,
La Revue de medecine interne.
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.
N. Boddaert,
A. Kaminska,
I. Desguerre,
2016,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
P. de Lonlay,
V. Boudy,
G. Morat,
2016,
Pharmaceutical development and technology.
R. Salomon,
A. Servais,
P. de Lonlay,
2017,
Human pathology.
S. Ellard,
L. Harries,
A. Gloyn,
2009,
Human mutation.
M. Polak,
P. de Lonlay,
I. Flechtner,
2006,
Diabetes & metabolism.
C. Junien,
F. Brunelle,
J. Saudubray,
1998,
The Journal of clinical investigation.
P. Bénit,
G. Gyapay,
J. Weissenbach,
2002,
Human molecular genetics.
C. Bellanné-Chantelot,
K. Hussain,
Y. Aigrain,
2014
.
P. Clayton,
K. Hussain,
J. Saudubray,
2002,
The Journal of clinical endocrinology and metabolism.
Leslie G. Biesecker,
Marjan Huizing,
William L. Nyhan,
2011,
Nature genetics.
P. de Lonlay,
V. McLin,
M. Schiff,
2020,
Journal of inherited metabolic disease.
P. de Lonlay,
L. Galmiche,
F. Jaubert,
2008,
Molecular genetics and metabolism.
J. Saudubray,
P. de Lonlay,
G. Durand,
2002,
Journal of medical genetics.
A. Munnich,
E. Schaftingen,
G. Matthijs,
2001,
Journal of medical genetics.
J. Saudubray,
P. de Lonlay,
M. Kretz,
1999,
The Journal of pediatrics.
N. Boddaert,
Philippe M. Campeau,
D. Rabier,
2009,
Molecular genetics and metabolism.
S. Gabriel,
J. Casanova,
E. Dikoglu,
2015,
Nature Genetics.
C. Junien,
C. Sempoux,
F. Brunelle,
2005,
Journal of Medical Genetics.
Wolfgang Müller-Felber,
Arnold Munnich,
Laurence Hubert,
2010,
Human mutation.
C. Bellanné-Chantelot,
Y. Aigrain,
P. de Lonlay,
2008,
The Journal of clinical endocrinology and metabolism.
B. Chadefaux-Vekemans,
A. Servais,
P. de Lonlay,
2017,
Journal of Inherited Metabolic Disease.
A. Munnich,
C. Guyot,
D. Rabier,
2008,
Molecular genetics and metabolism.
N. Boddaert,
F. Brunelle,
M. Ribeiro,
2005,
Journal of nuclear medicine : official publication, Society of Nuclear Medicine.
C. Sempoux,
F. Brunelle,
M. Ribeiro,
2014
.
M. Baumgartner,
S. Kölker,
R. Posset,
2018,
Journal of inherited metabolic disease.
P. Rustin,
P. de Lonlay,
G. Touati,
2005,
Pediatrics.
Alexander Hoischen,
Arnold Munnich,
Ron A Wevers,
2018,
American journal of human genetics.
M. Tarnopolsky,
A. Rotig,
D. Thorburn,
2014,
Human molecular genetics.
J. Christodoulou,
A. Rotig,
P. de Lonlay,
2013,
Orphanet Journal of Rare Diseases.
Colin A. Johnson,
A. Munnich,
N. Boddaert,
2007,
American journal of human genetics.
G. Matthijs,
U. Kornak,
C. Thiel,
2017,
European journal of medical genetics.
G. Pinto,
A. Servais,
P. de Lonlay,
2017,
Orphanet Journal of Rare Diseases.
P. de Lonlay,
A. Cano,
B. Chabrol,
2020,
Archives de pédiatrie.
P. van Endert,
M. Polak,
N. Boddaert,
2020,
Journal of inherited metabolic disease.
P. de Lonlay,
G. Durand,
S. Vuillaumier‐Barrot,
2006,
Molecular Genetics and Metabolism.
N. Boddaert,
F. Brunelle,
D. Lacombe,
2012,
Brain : a journal of neurology.
A. Munnich,
M. Zilbovicius,
D. Seidenwurm,
2010,
Journal of neuroradiology. Journal de neuroradiologie.
D. Rabier,
J. Saudubray,
P. de Lonlay,
2002,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. van Endert,
Y. Hamel,
M. Rodero,
2021,
Cell reports. Medicine.
Thomas Meitinger,
Nathalie Boddaert,
Robert Barouki,
2017,
American journal of human genetics.
D. Rabier,
P. de Lonlay,
A. Brassier,
2013,
Molecular genetics and metabolism.
R. Salomon,
D. Rabier,
Y. Aigrain,
2013,
Molecular genetics and metabolism.
K. Hussain,
P. de Lonlay,
O. Blankenstein,
2014,
Hormone and Metabolic Research.
N. Boddaert,
Philippe M. Campeau,
O. Dulac,
2010,
Journal of Child Neurology.
J. Thalabard,
A. Mamoune,
C. Bellanné-Chantelot,
2012,
European journal of endocrinology.
F. Brunelle,
G. Velho,
J. Saudubray,
2012,
Diabetes Care.
C. Sempoux,
C. Bellanné-Chantelot,
Y. Aigrain,
2011,
The Journal of clinical endocrinology and metabolism.
P. de Lonlay,
D. Cheillan,
G. Briand,
2012,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
N. Boddaert,
P. de Lonlay,
M. le Merrer,
2010,
Molecular genetics and metabolism.
T. Naas,
A. Legrand,
P. de Lonlay,
2008,
Molecular Genetics and Metabolism.
P. de Lonlay,
L. Galmiche,
A. Brassier,
2015,
JIMD reports.
A. Munnich,
D. Rabier,
P. de Lonlay,
2004,
Developmental medicine and child neurology.
G. Enns,
P. Witters,
E. Morava,
2019,
JIMD reports.
G. Matthijs,
G. Ponsot,
V. Cormier-Daire,
2003,
Neuropediatrics.
E. Sistermans,
M. McDonald,
T. Ben-Omran,
2013,
American journal of human genetics.
R. Scharfmann,
M. le Gall,
A. Leturque,
2013,
The Journal of Biological Chemistry.
N. Gregersen,
P. de Lonlay,
M. Minot-Myhié,
2017,
Clinica chimica acta; international journal of clinical chemistry.
A. Smahi,
A. Munnich,
G. Carman,
2013,
Biochimica et biophysica acta.
Y. Ville,
R. Bouvier,
M. Vekemans,
2010,
Molecular genetics and metabolism.
A. Munnich,
P. Rustin,
A. Rötig,
1999,
Archives des maladies du coeur et des vaisseaux.
Nancy T. Malintan,
J. Rothman,
D. Kullmann,
2019,
Brain : a journal of neurology.
N. Boddaert,
R. Nabbout,
A. Kaminska,
2017,
Epileptic disorders : international epilepsy journal with videotape.
A. Munnich,
A. Rötig,
C. Bole-Feysot,
2012,
Molecular genetics and metabolism.
M. Ribeiro,
J. Talbot,
C. Bellanné-Chantelot,
2014,
Expert review of endocrinology & metabolism.
P. de Lonlay,
A. Brassier,
S. Renolleau,
2022,
Molecular genetics and metabolism.
L. Christa,
C. Corne,
M. Milh,
2016,
JIMD Reports.
A. Munnich,
L. Christa,
D. Bonneau,
2012,
JIMD reports.
N. Boddaert,
F. Brunelle,
M. Ribeiro,
2007,
Endocrine development.
F. Brunelle,
J. Saudubray,
P. de Lonlay,
2001,
Pediatric Radiology.
Y. Aigrain,
P. de Lonlay,
F. Jaubert,
2011,
Seminars in pediatric surgery.
C. Sempoux,
N. Boddaert,
F. Brunelle,
2006,
The Journal of clinical endocrinology and metabolism.
C. Junien,
C. Sempoux,
F. Brunelle,
2001,
European Journal of Pediatrics.
A. Munnich,
N. Boddaert,
A. Rötig,
2012,
Mitochondrion.
A. Munnich,
R. Salomon,
S. Lyonnet,
1999,
Clinical genetics.
A. Brice,
V. Drouin‐Garraud,
C. Thauvin,
2014,
Orphanet Journal of Rare Diseases.
A. Munnich,
P. Rustin,
A. Rötig,
1999,
Human Genetics.
R. Posset,
A. Servais,
P. de Lonlay,
2021,
JIMD reports.
P. Bénit,
A. Munnich,
L. Hertz-Pannier,
2003,
Journal of medical genetics.
P. Bénit,
A. Munnich,
L. Hertz-Pannier,
2003,
Journal of medical genetics.
F. Mochel,
P. de Lonlay,
M. Schiff,
2021,
Molecular genetics and metabolism.
P. de Lonlay,
M. Tajir,
J. Arnoux,
2012,
European journal of medical genetics.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
Human mutation.
N. Boddaert,
F. Brunelle,
P. de Lonlay,
2005,
Medecine sciences : M/S.
A. Munnich,
D. Rabier,
J. Saudubray,
2011,
Molecular genetics and metabolism.
S. Lyonnet,
P. de Lonlay,
D. Bonnet,
2009,
Journal of Medical Genetics.
A. Afenjar,
C. Barnérias,
P. de Lonlay,
2010,
Journal of Medical Genetics.
A. Munnich,
G. Lenaers,
N. Leboucq,
2022,
European journal of neurology.
C. Bellanné-Chantelot,
S. Shyng,
P. de Lonlay,
2015,
Clinical genetics.
P. de Lonlay,
P. Lonlay,
N. Seta,
2009,
Biochimica et biophysica acta.
P. van Endert,
Nicolas Goudin,
P. de Lonlay,
2023,
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.
S. Ellard,
Raoul Rooman,
P. Clayton,
2011,
Diabetes.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2021,
The Journal of pediatrics.
J. Saudubray,
P. de Lonlay,
G. Touati,
2004,
Seminars in neonatology : SN.
P. Auquier,
N. Resseguier,
P. de Lonlay,
2020,
Jornal de Pediatria.
S. Brodie,
P. de Lonlay,
I. Ingster-moati,
2012,
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
L. Christa,
P. de Lonlay,
M. Maubert,
2015,
JIMD reports.
B. Grandchamp,
V. Cormier-Daire,
P. de Lonlay,
2000,
Journal of medical genetics.
C. Repérant,
C. Denis,
P. de Lonlay,
2022,
Thrombosis and haemostasis.
C. Junien,
C. Sempoux,
F. Brunelle,
2004,
Annales d'endocrinologie.
C. Bellanné-Chantelot,
P. de Lonlay,
L. Hubert,
2008,
PloS one.
N. Boddaert,
F. Brunelle,
M. Ribeiro,
2005,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. van Endert,
A. Imbard,
N. Dupont,
2023,
bioRxiv.
A. Munnich,
P. Rustin,
A. Rötig,
2001,
Neuropediatrics.
A. Imbard,
P. de Lonlay,
A. Brassier,
2022,
Molecular genetics and metabolism reports.
M. Gonzalès,
J. Saudubray,
P. de Lonlay,
2006,
The Journal of pediatrics.
N. Drouot,
A. Durr,
M. Koenig,
2013,
Orphanet Journal of Rare Diseases.
A. Munnich,
H. Prokisch,
N. Boddaert,
2020,
European journal of medical genetics.
A. Servais,
P. de Lonlay,
L. Ranganath,
2015,
Journal of Inherited Metabolic Disease.
O. Dulac,
R. Nabbout,
A. Kaminska,
2006,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
A. Munnich,
J. Saudubray,
V. Cormier-Daire,
2000,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
M. Bryckaert,
J. Melki,
F. Adam,
2018,
Haematologica.
N. Boddaert,
A. Kaminska,
A. Harroche,
2023,
Molecular genetics and metabolism.
C. Sempoux,
F. Brunelle,
M. Ribeiro,
2010,
Early human development.
C. Barnérias,
I. Desguerre,
M. Hully,
2023,
Molecular genetics and metabolism.
P. de Lonlay,
A. Brassier,
S. Renolleau,
2023,
Journal of inherited metabolic disease.
P. de Lonlay,
A. Chenouard,
P. Bourgoin,
2018,
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.
J. Cézard,
M. Besnard,
C. Faure,
2003,
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.
P. Bénit,
P. Rustin,
T. Langer,
2018,
The EMBO journal.
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency
A. Munnich,
J. Steffann,
B. Chadefaux-Vekemans,
2009,
Human mutation.
S. Ellard,
L. Harries,
A. Gloyn,
2009,
Human mutation.
A. Laquérriere,
P. de Lonlay,
J. Bergounioux,
2012,
The Journal of pediatrics.
N. Romero,
J. Hogrel,
P. Laforêt,
2017,
Mitochondrion.
A. Munnich,
N. Boddaert,
A. Rötig,
2020,
European Journal of Human Genetics.
A. Munnich,
N. Boddaert,
A. Rötig,
2020
.
A. Rötig,
P. de Lonlay,
A. Brassier,
2023,
Journal of inherited metabolic disease.
P. van Endert,
N. Dupont,
Nicolas Goudin,
2023,
bioRxiv.