Samia Pichard

Samia Pichard

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Samia Pichard

Samia Pichard

Publications by authors named "Samia Pichard"

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Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.

Sci Rep 2019 Oct 1;9(1):14098. Epub 2019 Oct 1.

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

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http://dx.doi.org/10.1038/s41598-019-50518-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6773867PMC
October 2019

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

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

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

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

Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren-Larsson's Syndrome.

Neuropediatrics 2017 06 7;48(3):205-206. Epub 2017 Apr 7.

APHP, Service de Neurologie Pédiatrique et Maladies Métaboliques, Hôpital Robert Debré, Paris, France.

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http://dx.doi.org/10.1055/s-0037-1601856DOI Listing
June 2017

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

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

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

New spastic paraplegia phenotype associated to mutation of NFU1.

Orphanet J Rare Dis 2015 Feb 8;10:13. Epub 2015 Feb 8.

Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333890PMC
February 2015