Manuel Schiff

Manuel Schiff

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Manuel Schiff

Manuel Schiff

Publications by authors named "Manuel Schiff"

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Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients.

Mol Genet Metab Rep 2019 Sep 25;20:100498. Epub 2019 Jul 25.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664159PMC
September 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

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

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Long-term liver disease in methylmalonic and propionic acidemias.

Mol Genet Metab 2018 04 7;123(4):433-440. Epub 2018 Feb 7.

Biochemistry Laboratory, APHP, Robert Debré University Hospital, Paris, France; Paris Sud University, Chatenay Malabry, France. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.009DOI Listing
April 2018

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

Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.

Biochim Biophys Acta Mol Basis Dis 2018 Mar 13;1864(3):668-675. Epub 2017 Dec 13.

Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, 35392 Giessen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.12.014DOI Listing
March 2018

DNAJC12: A molecular chaperone involved in proteostasis, PKU, biogenic amines metabolism and beyond?

Mol Genet Metab 2018 03 12;123(3):285-286. Epub 2018 Feb 12.

Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris 75019, France; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.006DOI Listing
March 2018

Metabolic pathways at the crossroads of diabetes and inborn errors.

J Inherit Metab Dis 2018 01 26;41(1):5-17. Epub 2017 Sep 26.

Department of Pediatrics, School of Medicine, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA, 15224, USA.

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http://dx.doi.org/10.1007/s10545-017-0091-xDOI Listing
January 2018

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.

Eur J Paediatr Neurol 2017 Nov 29;21(6):907-911. Epub 2017 Jul 29.

Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; UMR1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.015DOI Listing
November 2017

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Am J Med Genet A 2017 Jul 25;173(7):1936-1942. Epub 2017 Apr 25.

Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR1141, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38217DOI Listing
July 2017

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.

EBioMedicine 2017 Mar 16;17:75-87. Epub 2017 Feb 16.

INSERM UMR 1141, PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2017.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360583PMC
March 2017

Antenatal nephromegaly and propionic acidemia: a case report.

BMC Nephrol 2017 Mar 30;18(1):110. Epub 2017 Mar 30.

Pediatric Nephrology Department, Robert Debré Hospital, 48 Boulevard Sérurier, 75019, Paris, France.

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http://dx.doi.org/10.1186/s12882-017-0535-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5372311PMC
March 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

An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1.

Eur J Paediatr Neurol 2016 Jul 16;20(4):674-7. Epub 2016 Mar 16.

AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique et des Maladies Métaboliques, 75019 Paris, France; INSERM, U1141, 75019 Paris, France; Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, 75019 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.02.015DOI Listing
July 2016

Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy?

Brain 2016 07 19;139(Pt 7):e39. Epub 2016 Apr 19.

1 Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1141, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France 2 Faculté de Médecine Denis Diderot, Université Paris Diderot - Paris 7, Site Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France

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http://dx.doi.org/10.1093/brain/aww085DOI Listing
July 2016

Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908062PMC
June 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

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

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Mitochondrial cytochrome c oxidase deficiency.

Clin Sci (Lond) 2016 Mar;130(6):393-407

Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche 1141, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France Faculté de Médecine Denis Diderot, Université Paris Diderot-Paris 7, Site Robert Debré, 48 Boulevard Sérurier, 75019 Paris, France

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http://dx.doi.org/10.1042/CS20150707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948581PMC
March 2016

Autism and inborn errors of metabolism: how much is enough?

Dev Med Child Neurol 2015 Sep 15;57(9):788-9. Epub 2015 Apr 15.

Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1111/dmcn.12771DOI Listing
September 2015

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Hum Mol Genet 2015 Jun 26;24(11):3238-47. Epub 2015 Feb 26.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15224, USA

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http://dx.doi.org/10.1093/hmg/ddv074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424958PMC
June 2015

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.

Mol Genet Metab Rep 2015 Jun;3:43-46

Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA ; Inserm U1141, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France ; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435574PMC
June 2015

Angelman syndrome and isovaleric acidemia: What is the link?

Mol Genet Metab Rep 2015 Jun 30;3:36-8. Epub 2015 Mar 30.

Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, Paris, France; Department of Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Inserm U1141, Hôpital Robert Debré, Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2015.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750580PMC
June 2015

High homocysteine induces betaine depletion.

Biosci Rep 2015 Apr 28;35(4). Epub 2015 Apr 28.

‡Laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg D-79106, Germany.

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http://www.bioscirep.org/content/ppbioscirep/35/4/e00222.ful
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http://bioscirep.org/cgi/doi/10.1042/BSR20150094
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http://dx.doi.org/10.1042/BSR20150094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613678PMC
April 2015

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

Mol Genet Metab 2013 May 13;109(1):21-7. Epub 2013 Feb 13.

Department of Pediatrics, University of Pittsburgh School of Medicine, University of Pittsburgh, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628282PMC
May 2013

Treatment of inherited homocystinurias.

Neuropediatrics 2012 Dec 2;43(6):295-304. Epub 2012 Nov 2.

Reference Center for Inherited Metabolic Diseases, APHP and Inserm U676, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1055/s-0032-1329883DOI Listing
December 2012

Therapies in inborn errors of oxidative metabolism.

Trends Endocrinol Metab 2012 Sep 25;23(9):488-95. Epub 2012 May 25.

Institut National de la Santé et de la Recherche Médicale Unité 676, Hôpital Robert Debré, F-75019 Paris, France.

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http://dx.doi.org/10.1016/j.tem.2012.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135311PMC
September 2012

Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.

Mol Genet Metab 2012 May 17;106(1):12-7. Epub 2012 Feb 17.

APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, F-75019 Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.02.010DOI Listing
May 2012

Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.

Semin Fetal Neonatal Med 2011 Aug 24;16(4):216-21. Epub 2011 May 24.

APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, F-75019 Paris, France.

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http://dx.doi.org/10.1016/j.siny.2011.04.002DOI Listing
August 2011

Isolated remethylation disorders: do our treatments benefit patients?

J Inherit Metab Dis 2011 Feb 21;34(1):137-45. Epub 2010 May 21.

Reference Center for Metabolic Disease, Robert Debré University Hospital, Paris, France.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9120
Web Search
http://link.springer.com/10.1007/s10545-010-9120-8
Publisher Site
http://dx.doi.org/10.1007/s10545-010-9120-8DOI Listing
February 2011

Mitochondrial response to controlled nutrition in health and disease.

Nutr Rev 2011 Feb 14;69(2):65-75. Epub 2011 Jan 14.

Centre de référence Maladies Métaboliques, Hôpital Robert Debré, APHP, Université Paris 7, Faculté de médecine Denis Diderot, IFR02, INSERM, U676, Paris, France.

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http://dx.doi.org/10.1111/j.1753-4887.2010.00363.xDOI Listing
February 2011

Pericallosal lipoma and middle cerebral artery aneurysm: a coincidence?

Pediatr Radiol 2010 Aug 12;40(8):1417-20. Epub 2010 Feb 12.

Department of Paediatric Neurology and Metabolic Diseases, Hôpital Robert Debré, APHP, 48 Bd Sérurier, 75935, Paris Cedex 19, France.

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http://dx.doi.org/10.1007/s00247-009-1534-9DOI Listing
August 2010

Should transcobalamin deficiency be treated aggressively?

J Inherit Metab Dis 2010 Jun 30;33(3):223-9. Epub 2010 Mar 30.

Service de Neuropédiatrie & Maladies Métaboliques, Centre de référence Maladies Métaboliques, CHU Robert Debré, APHP, Paris, France.

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http://dx.doi.org/10.1007/s10545-010-9074-xDOI Listing
June 2010

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Mol Genet Metab 2006 Jun 28;88(2):153-8. Epub 2006 Feb 28.

Centre de Référence Maladies Héréditaires du Métabolisme, Service de Biochimie Pédiatrique, Hôpital Debrousse, Lyon, France.

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http://dx.doi.org/10.1016/j.ymgme.2006.01.009DOI Listing
June 2006

Leigh's disease due to a new mutation in the PDHX gene.

Ann Neurol 2006 Apr;59(4):709-14

Service de Neuropédiatrie et Maladies métaboliques, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1002/ana.20818DOI Listing
April 2006

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Mol Genet Metab 2006 Feb 1;87(2):175-7. Epub 2005 Dec 1.

Département de Pédiatrie, Pavillon S, Hôpital Edouard Herriot, Place d'Arsonval, 69437 Lyon Cedex 03, France.

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http://dx.doi.org/10.1016/j.ymgme.2005.10.007DOI Listing
February 2006

Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?

Nephrol Dial Transplant 2005 Nov 9;20(11):2563-5. Epub 2005 Aug 9.

Hôpital Edouard Herriot, Pediatrics, Centre de Référence Maladies Héréditaires du Métabolisme, Lyon, France.

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http://dx.doi.org/10.1093/ndt/gfi063DOI Listing
November 2005

Ear and kidney malformations with renal failure in an infant: what is the link?

Nephrol Dial Transplant 2003 Aug;18(8):1673-4

Département de pédiatrieHôpital Edouard HerriotF-69437 Lyon cedex 03France.

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http://dx.doi.org/10.1093/ndt/gfg235DOI Listing
August 2003