Pascale De Lonlay

Pascale De Lonlay

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Pascale De Lonlay

Publications by authors named "Pascale De Lonlay"

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Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Mol Genet Metab 2019 Jun 3;127(2):147-157. Epub 2019 Jun 3.

Metabolic Biochemistry Laboratory, Hospital Necker Enfants Malades, APHP, University Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2019.06.001DOI Listing
June 2019

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Autism spectrum disorders in propionic acidemia patients.

J Inherit Metab Dis 2018 07 30;41(4):623-629. Epub 2017 Aug 30.

Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-017-0070-2DOI Listing
July 2018

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Mol Genet Metab 2018 07 9;124(3):228-235. Epub 2018 May 9.

AP-HP, Bichat University Hospital, Biochemistry, Paris, France; INSERM UMR-1193 "Mécanismes cellulaires et moléculaires de l'adaptation au stress et cancérogenèse", Université Paris-Sud, Châtenay-Malabry, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.05.002DOI Listing
July 2018

Virus or Bacteria: Is It the Only Cause of Sepsis-Induced Rhabdomyolysis?

Pediatr Crit Care Med 2018 07;19(7):694

Pediatric Intensive Care Unit, Nantes University Hospital, Nantes, France Neurometabolism department, Nantes University Hospital, Nantes, France Reference Centre of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France Pediatric Intensive Care Unit, Nantes University Hospital, Nantes, France.

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http://dx.doi.org/10.1097/PCC.0000000000001550DOI Listing
July 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.

Mol Genet Metab 2018 03 5;123(3):375-381. Epub 2018 Jan 5.

Reference Centre of Inherited Metabolic Diseases, Hospital Necker Enfants Malades, APHP, Institute Imagine, University Paris Descartes, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173061
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http://dx.doi.org/10.1016/j.ymgme.2017.12.429DOI Listing
March 2018

Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling.

Clin Chim Acta 2017 Dec 2;475:7-14. Epub 2017 Oct 2.

Department of Metabolic Biochemistry, Rouen University Hospital, Rouen 76000, France; Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.09.024DOI Listing
December 2017

Normal human adipose tissue functions and differentiation in patients with biallelic inactivating mutations.

J Lipid Res 2017 12 6;58(12):2348-2364. Epub 2017 Oct 6.

Centre de Référence des Maladies Héréditaires du Métabolisme, Institut Imagine des Maladies Génétiques, Laboratoire de génétique des maladies autoinflammatoires monogéniques, INSERM UMR1163, Université Paris Descartes et Hôpital Necker-Enfants malades (Assistance publique - Hôpitaux de Paris), Paris, France

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http://dx.doi.org/10.1194/jlr.P075440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5711497PMC
December 2017

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

Clin Chim Acta 2017 Aug 19;471:101-106. Epub 2017 May 19.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.026DOI Listing
August 2017

Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia.

J Clin Endocrinol Metab 2017 08;102(8):2914-2921

The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council (MRC) Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-00768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546860PMC
August 2017

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

Hum Pathol 2017 Apr 11;62:160-169. Epub 2017 Jan 11.

Pathology Department Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris, Université Sorbonne Paris Cité, 75015, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.humpath.2016.12.021DOI Listing
April 2017

Epileptic spasms in congenital disorders of glycosylation.

Epileptic Disord 2017 Mar;19(1):15-23

Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris, INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France.

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http://dx.doi.org/10.1684/epd.2017.0901DOI Listing
March 2017

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

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

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

J Clin Endocrinol Metab 2016 12 3;101(12):4719-4729. Epub 2016 Oct 3.

Department of Pediatrics (M.S.), Centre Hospitalier Universitaire Estaing, 63003 Clermont-Ferrand Cedex 1, France; Department of Pediatric Endocrinology (M.S.E., R.P., I.B.), Royal Manchester Children's Hospital, Manchester M13 9WL, United Kingdom; Faculty of Life Science (B.H., K.M., A.S., M.J.D.), University of Manchester, Manchester M13 9PL, United Kingdom; Department of Pediatrics (L.D., F.P.-L.B., E.L.), Sud Hospital, 35203 Rennes, France; Department of Pediatrics (R.R., C.F.), Timone Hospital, 13385 Marseille Cedex 5, France; Metabolism Unit (C.B., P.d.L., J.-B.A.), Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, 75743 Paris Cedex 15, France; Imagine-Genetic Disease Institute (P.d.L.), 75015 Paris, France; Paris Descartes University (P.d.L.), 75270 Paris, France; and Department of Genetics (C.S.-M.), Assistance Publique-Hôpitaux de Paris Groupe Hospitalier Pitié-Salpêtrière, Pierre et Marie Curie University, 75013 Paris Cedex 13, France.

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http://dx.doi.org/10.1210/jc.2016-2711DOI Listing
December 2016

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

J Autoimmun 2016 09 16;73:54-63. Epub 2016 Jun 16.

Institut National de la Sante et de la Recherche Médicale, Unité 1151, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Faculté de médecine, 75015 Paris, France; Centre National de la Recherche Scientifique, UMR8253, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2016.06.003DOI Listing
September 2016

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

Orphanet J Rare Dis 2016 Sep 23;11(1):127. Epub 2016 Sep 23.

Reference Centre for Inherited Metabolic Disorders (MaMEA), Hôpital Necker-Enfants Malades, Institut Imagine, Université Paris Descartes, 149 rue de Sèvres, 75743, Paris, Cedex 15, France.

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http://dx.doi.org/10.1186/s13023-016-0513-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034629PMC
September 2016

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

Eur J Pediatr 2016 Jun 29;175(6):849-58. Epub 2016 Mar 29.

Pediatric Intensive Care Unit, Necker-Enfants-Malades Hospital, APHP, Paris-Descartes University, 149, Rue de Sèvres, 75743, Paris, Cedex 15, France.

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http://dx.doi.org/10.1007/s00431-016-2717-7DOI Listing
June 2016

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

JIMD Rep 2016 27;27:39-45. Epub 2015 Sep 27.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, University of Paris Descartes, Institut Imagine, Paris, France.

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http://link.springer.com/content/pdf/10.1007%2F8904_2015_481
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http://link.springer.com/10.1007/8904_2015_481
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http://dx.doi.org/10.1007/8904_2015_481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864717PMC
May 2016

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

J Inherit Metab Dis 2016 Jan 25;39(1):47-58. Epub 2015 Jun 25.

INSERM UMR-1124, Université Paris Descartes, Centre Universitaire des Saints Pères, 45 rue des Saints Pères, 75006, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9871-3DOI Listing
January 2016

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

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Vaccination coverage of patients with inborn errors of metabolism and the attitudes of their parents towards vaccines.

Vaccine 2015 Nov 27;33(48):6520-4. Epub 2015 Oct 27.

Paediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0264410X150150
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http://dx.doi.org/10.1016/j.vaccine.2015.10.073DOI Listing
November 2015

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

J Inherit Metab Dis 2015 Sep 20;38(5):881-7. Epub 2015 Jan 20.

Service de Biochimie, CHU Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1007/s10545-014-9804-6DOI Listing
September 2015

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

J Inherit Metab Dis 2015 Sep 10;38(5):791-6. Epub 2015 Apr 10.

Reference Centre for Inherited Metabolic Diseases Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris, 149 rue de Sèvres, Paris, 75015, France,

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http://dx.doi.org/10.1007/s10545-015-9844-6DOI Listing
September 2015

Acute rhabdomyolysis and inflammation.

J Inherit Metab Dis 2015 Jul 17;38(4):621-8. Epub 2015 Mar 17.

Institut Imagine, Institut National de la Santé et de la Recherche Médicale, Unité 1163, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10545-015-9827-7DOI Listing
July 2015

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

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

Lung involvement in children with lysinuric protein intolerance.

J Inherit Metab Dis 2015 Mar 22;38(2):257-63. Epub 2014 Oct 22.

Service de Pneumologie pédiatrique, Hôpital Jeanne de Flandre, CHRU de Lille, Paris, France,

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http://link.springer.com/10.1007/s10545-014-9777-5
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http://dx.doi.org/10.1007/s10545-014-9777-5DOI Listing
March 2015

Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency.

Nanomedicine (Lond) 2015 Jan 21;10(2):185-91. Epub 2014 Feb 21.

CEA, Direction des Sciences du Vivant, iBiTec-S, Service de Pharmacologie et d'Immuno Analyse, Equipe Pharmacologie Neurovasculaire, Gif-sur-Yvette, France.

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http://dx.doi.org/10.2217/nnm.13.205DOI Listing
January 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Orphanet J Rare Dis 2014 Dec 11;9:207. Epub 2014 Dec 11.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique, Unité Fonctionnelle de Neurogénétique moléculaire et cellulaire et Centre de Référence des Déficiences Intellectuelles de Causes Rares, 47-83 boulevard de l'hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1186/s13023-014-0207-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266234PMC
December 2014

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

PLoS Genet 2014 Nov 13;10(11):e1004711. Epub 2014 Nov 13.

INSERM U781, Institut Imagine des Maladies Génétiques, Université Paris Descartes et Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker, AP-HP, Paris, France.

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http://dx.doi.org/10.1371/journal.pgen.1004711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230727PMC
November 2014

Inborn errors of metabolism underlying primary immunodeficiencies.

J Clin Immunol 2014 Oct 1;34(7):753-71. Epub 2014 Aug 1.

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran,

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http://dx.doi.org/10.1007/s10875-014-0076-6DOI Listing
October 2014

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

Expert Rev Endocrinol Metab 2014 Sep 13;9(5):477-485. Epub 2014 Aug 13.

b Centre de référence des maladies héréditaires du métabolisme de l'enfant, et l'adulte, AP-HP Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1586/17446651.2014.949240DOI Listing
September 2014

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.

Mitochondrion 2014 Mar 22;15:59-64. Epub 2014 Jan 22.

Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, APHP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2014.01.003DOI Listing
March 2014

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

J Clin Endocrinol Metab 2013 Nov 13;98(11):4279-84. Epub 2013 Sep 13.

MD, Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2013-2740DOI Listing
November 2013

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

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013

Natural history of Barth syndrome: a national cohort study of 22 patients.

Orphanet J Rare Dis 2013 May 8;8:70. Epub 2013 May 8.

AP-HP, Registre français des neutropénies chroniques sévères, Centre de référence des déficits Immunitaires Héréditaires, Service d'Hémato-oncologie Pédiatrique Hôpital Trousseau, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656783PMC
May 2013

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

Dev Med Child Neurol 2013 Feb 4;55(2):162-6. Epub 2012 Dec 4.

Neuropediatrics Department, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12045DOI Listing
February 2013

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Mol Genet Metab 2012 Dec 22;107(4):700-4. Epub 2012 Oct 22.

Assistance Publique-Hôpitaux de Paris, Services de Génétique, de Cytogénétique et de Maladies Métaboliques, Hôpital Necker-Enfants Malades, 149, rue de Sèvres 75743 Paris cedex 15, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.10.008DOI Listing
December 2012

Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia.

Dev Med Child Neurol 2012 Nov 27;54(11):1012-7. Epub 2012 Aug 27.

Neuropediatrics Department, Necker-Enfants Malades Hospital, Paris, France.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04400.xDOI Listing
November 2012

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

Eur J Med Genet 2012 Oct 20;55(10):535-40. Epub 2012 Jul 20.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.006DOI Listing
October 2012

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

J Pediatr 2012 Jun 4;160(6):1052-4. Epub 2012 Apr 4.

Pediatric Intensive Care Unit, Assistance publique des hôpitaux de Paris, Hospital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2012.02.033DOI Listing
June 2012

Toward genotype phenotype correlations in GFM1 mutations.

Mitochondrion 2012 Mar 1;12(2):242-7. Epub 2011 Oct 1.

Department of Genetics, Hôpital Necker-Enfants Malades, Université Paris Descartes and INSERM U781, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.mito.2011.09.007DOI Listing
March 2012

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

Eur J Endocrinol 2012 Feb 2;166(2):333-9. Epub 2011 Nov 2.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, AP-HP, Université Paris Descartes, 149 Rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1530/EJE-11-0874DOI Listing
February 2012

Congenital hyperinsulinism: current trends in diagnosis and therapy.

Orphanet J Rare Dis 2011 Oct 3;6:63. Epub 2011 Oct 3.

Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et l'Adulte, AP-HP Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-6-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199232PMC
October 2011