Dries Dobbelaere

Dries Dobbelaere

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Dries Dobbelaere

Dries Dobbelaere

Publications by authors named "Dries Dobbelaere"

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46Publications

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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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http://dx.doi.org/10.7150/ijms.32413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6643127PMC
June 2019

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.02.005DOI Listing
April 2018

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

A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.

Anal Biochem 2017 07 26;528:57-62. Epub 2017 Apr 26.

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.ab.2017.04.015DOI Listing
July 2017

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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http://dx.doi.org/10.1016/j.ymgme.2017.03.006DOI Listing
June 2017

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

J Inherit Metab Dis 2017 01 26;40(1):5-20. Epub 2016 Sep 26.

Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10545-016-9972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203850PMC
January 2017

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.

Clin Nutr 2016 12 8;35(6):1414-1422. Epub 2016 Apr 8.

Reference Center for Inherited Metabolic Diseases in Child and Adulthood, Lille University Children's Hospital Jeanne de Flandre, and RADEME EA 7364, Lille University, F-59000 Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2016.03.015DOI Listing
December 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

Creatine biosynthesis and transport in health and disease.

Biochimie 2015 Dec 2;119:146-65. Epub 2015 Nov 2.

Biochemistry and Molecular Biology, Hormonology-Metabolism-Nutrition & Oncology (HMNO), Center of Biology & Pathology (CBP) Pierre-Marie Degand, CHRU Lille, 59037 Lille, France; RADEME Research Team for Rare Metabolic and Developmental Diseases, EA 7364, Université Lille 2, Lille, France; Inserm, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2015.10.022DOI Listing
December 2015

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

Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

Pharmaceuticals (Basel) 2015 Sep 25;8(4):664-74. Epub 2015 Sep 25.

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.

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http://dx.doi.org/10.3390/ph8040664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4695804PMC
September 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

JIMD Rep 2015 22;22:29-38. Epub 2015 Feb 22.

Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://link.springer.com/10.1007/8904_2015_408
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http://dx.doi.org/10.1007/8904_2015_408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274PMC
July 2015

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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http://www.ojrd.com/content/pdf/1750-1172-7-26.pdf
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http://www.ojrd.com/content/7/1/26
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http://dx.doi.org/10.1186/1750-1172-7-26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458880PMC
May 2012

Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

Cerebellum 2012 Mar;11(1):289-99

Department of Neurology, EA 2683, IMPRT, IFR114, Université Lille Nord de France, CHRU, Lille, France.

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http://dx.doi.org/10.1007/s12311-011-0310-1DOI Listing
March 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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http://dx.doi.org/10.1186/1750-1172-7-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349544PMC
January 2012

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.

Clin Chim Acta 2009 Aug 5;406(1-2):23-6. Epub 2009 May 5.

Department of Biochemistry and Molecular Biology - Laboratory of Endocrinology, Metabolism-Nutrition, Oncology - Biology Pathology Center, CHRU Lille, 59037 Lille cedex, France.

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http://dx.doi.org/10.1016/j.cca.2009.04.026DOI Listing
August 2009

A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.

Eur J Pediatr 2003 Jul 14;162(7-8):520-521. Epub 2003 May 14.

Unité de Maladies Métaboliques, Hôpital Jeanne de Flandre, Lille, France.

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http://link.springer.com/10.1007/s00431-003-1198-7
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http://dx.doi.org/10.1007/s00431-003-1198-7DOI Listing
July 2003