Publications by authors named "Arnaud Wiedemann"

13Publications

[Phenylketonuria, from diet to gene therapy].

Med Sci (Paris) 2020 Aug-Sep;36(8-9):725-734. Epub 2020 Aug 21.

Centre de référence des maladies métaboliques, Service de pédiatrie, CHRU de Nancy, 54000 Nancy, France - Inserm UMR_S 1256 (NGERE, Nutrition Génétique et Exposition aux Risques Environnementaux), Faculté de médecine de Nancy, Université de Lorraine, 54000 Nancy, France.

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http://dx.doi.org/10.1051/medsci/2020127DOI Listing
October 2020

Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1).

Calcif Tissue Int 2020 Aug 19;107(2):191-194. Epub 2020 May 19.

Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France.

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http://dx.doi.org/10.1007/s00223-020-00704-4DOI Listing
August 2020

SIRT1 activation rescues the mislocalization of RNA-binding proteins and cognitive defects induced by inherited cobalamin disorders.

Metabolism 2019 12 28;101:153992. Epub 2019 Oct 28.

Université de Lorraine, Inserm, UMRS 1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, F-54000 Nancy, France; Université de Lorraine, CHRU-Nancy, National Center of Inborn Errors of Metabolism, F-54000 Nancy, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2019.153992DOI Listing
December 2019

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

J Hum Genet 2020 Jan 23;65(2):91-98. Epub 2019 Oct 23.

INSERM UMR_S 1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre for Inherited Metabolic Diseases (ORPHA67872), University Hospital of Nancy and Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.

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http://dx.doi.org/10.1038/s10038-019-0689-yDOI Listing
January 2020

Efficacy of low dose nitisinone in the management of alkaptonuria.

Mol Genet Metab 2019 07 19;127(3):184-190. Epub 2019 Jun 19.

Pediatric Unit, Reference center for Inborn Errors of Metabolism of Nancy, University Children's Hospital, CHU Brabois, Vandoeuvre les Nancy, France; INSERM UMRS 1256 NGERE, Nutrition, Genetics, and Environmental Risk Exposure, National Center of Inborn Errors of Metabolism, Faculty of Medicine of Nancy, University of Lorraine and University Regional Hospital Center of Nancy, Vandoeuvre-les-Nancy F-54000, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.06.006DOI Listing
July 2019

Annual Injection of Zoledronic Acid Improves Bone Status in Children with Cerebral Palsy and Rett Syndrome.

Calcif Tissue Int 2019 04 15;104(4):355-363. Epub 2018 Dec 15.

Centre de référence des erreurs innées du métabolisme, Hôpital d'Enfants, CHRU Nancy, Nancy, France.

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http://dx.doi.org/10.1007/s00223-018-0505-2DOI Listing
April 2019

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

J Bone Miner Res 2017 Sep 13;32(9):1893-1899. Epub 2017 Jul 13.

CHU de Nancy, Department of Pediatrics and Reference Center for Rare Hereditary Diseases of Metabolism, Vandoeuvre-lès-Nancy, France.

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http://dx.doi.org/10.1002/jbmr.3181DOI Listing
September 2017

Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

Neuropediatrics 2016 Jun 4;47(3):179-81. Epub 2016 Mar 4.

Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.

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http://dx.doi.org/10.1055/s-0036-1578798DOI Listing
June 2016