Publications by authors named "Karine Mention"

28Publications

Effect of the enzyme replacement therapy on hypertrophic cardiomyopathy in an infant with the CRIM-negative infantile Pompe's disease.

Pediatr Neonatol 2020 Dec 13. Epub 2020 Dec 13.

Pediatric Inherited Metabolic Disorders, Hôpital Jeanne de Flandre, Lille, France.

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December 2020

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

EBioMedicine 2020 Jan 7;51:102623. Epub 2020 Jan 7.

University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, Nutrition, and Metabolism, University Hospital of Nancy, Nancy, France; Reference Centre for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, Nancy F-54000, France.

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January 2020

First-line Screening of OXPHOS Deficiencies Using Microscale Oxygraphy in Human Skin Fibroblasts: A Preliminary Study.

Int J Med Sci 2019 7;16(7):931-938. Epub 2019 Jun 7.

Univ. Lille, Inserm, UMR-S 1172 - JPArc - Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer, F-59000 Lille, France.

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February 2020

The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

Int Orthod 2019 06 17;17(2):375-383. Epub 2019 Apr 17.

University Lille 2, Roger-Salengro hospital, department of maxillofacial surgery, 59000 Lille, France; Controlled Drug Delivery Systems and Biomaterials, Inserm U 1008, 59000 Lille, France.

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June 2019

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

Mol Genet Metab 2017 06 30;121(2):111-118. Epub 2017 Mar 30.

Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2, Lille 59037, France. Electronic address:

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June 2017

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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September 2016

Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.

J Inherit Metab Dis 2012 Nov 5;35(6):993-9. Epub 2012 Jun 5.

Department of Pediatrics, Brest University Hospital, CHRU Morvan, 2 avenue Foch, 29200, Brest, France.

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November 2012

Hypoglycaemia related to inherited metabolic diseases in adults.

Orphanet J Rare Dis 2012 May 15;7:26. Epub 2012 May 15.

Service d'Endocrinologie et maladies Métaboliques, Hôpital Claude Huriez, Centre Hospitalier Régional et Universitaire de Lille, France.

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May 2012

Endocrine manifestations related to inherited metabolic diseases in adults.

Orphanet J Rare Dis 2012 Jan 28;7:11. Epub 2012 Jan 28.

Service d'Endocrinologie et Maladies Métaboliques, 1, Rue Polonovski, Hôpital C Huriez, Centre Hospitalier Régional et Universitaire de Lille, 59037 Lille cedex, France.

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January 2012

What's new in metabolic and genetic hypoglycaemias: diagnosis and management.

Eur J Pediatr 2008 Mar 3;167(3):257-65. Epub 2007 Oct 3.

Metabolic Department and Reference Centre for Metabolic Diseases, Necker-Enfants Malades Hospital, 149, Rue des Sèvres, 75015 Paris, France,

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March 2008

Glycogen storage disease type IX: High variability in clinical phenotype.

Mol Genet Metab 2007 Sep-Oct;92(1-2):88-99. Epub 2007 Aug 3.

Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield S10 2TH, and Department of Paediatrics, Addenbrook's Hospital, Cambridge, UK.

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November 2007

Gastropathy and gastritis in children with portal hypertension.

J Pediatr Gastroenterol Nutr 2007 Jul;45(1):137-40

Department of Pediatric Gastroenterology, Jeanne de Flandre Hospital, France.

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July 2007

[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].

Med Sci (Paris) 2005 Nov;21(11):981-6

Service de radiologie pédiatrique, ERM 0205, Hôpital Necker Enfants-Malades, 149, rue de Sèvres, 75743 Paris Cedex 15, France.

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November 2005

Home enteral nutrition in children: an 11-year experience with 416 patients.

Clin Nutr 2005 Feb;24(1):48-54

Unité de Gastroentérologie, Hépatologie et Nutrition, Clinique de Pédiatrie, Centre Hospitalier Regional Universitaire de Lille, France.

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February 2005

Helicobacter pylori infection is not associated with specific symptoms in nonulcer-dyspeptic children.

Pediatrics 2005 Jan;115(1):17-21

Department of Pediatrics, Clinique de Pédiatrie Saint Antoine, Hôpital Saint Vincent de Paul, Catholic University, Boulevard Belfort, BP 387, 59020 Lille, France.

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January 2005