Mokhtar Zater

Mokhtar Zater

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Mokhtar Zater

Mokhtar Zater

Publications by authors named "Mokhtar Zater"

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Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

J Inherit Metab Dis 2015 Sep 20;38(5):881-7. Epub 2015 Jan 20.

Service de Biochimie, CHU Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1007/s10545-014-9804-6DOI Listing
September 2015

Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.

Analyst 2015 Apr;140(7):2280-6

Université de Reims Champagne-Ardenne, Equipe MéDIAN, Biophotonique et Technologies pour la Santé, UFR de Pharmacie, 51 rue Cognacq-Jay, 51096 Reims, France.

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http://dx.doi.org/10.1039/c4an01942cDOI Listing
April 2015

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Mol Genet Metab 2012 Nov 6;107(3):438-47. Epub 2012 Aug 6.

Biochimie - Hôpital de Bicêtre, Hôpitaux Universitaires Paris-Sud, APHP-Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.025DOI Listing
November 2012

Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations.

Mol Genet Metab 2008 Aug 9;94(4):443-7. Epub 2008 Jun 9.

Laboratoire de Biochimie, CHU de Bicêtre, Assistance Publique-Hôpitaux de Paris, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France et Université Paris XI, IFR Bicêtre, France.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.003DOI Listing
August 2008

Prenatal molecular diagnosis of inherited cholestatic diseases.

J Pediatr Gastroenterol Nutr 2007 Apr;44(4):453-8

Pediatric Hepatology and National Reference Centre for Biliary Atresia, Bicêtre Hospital, University of Paris-South XI, AP-HP, Paris, France.

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http://dx.doi.org/10.1097/MPG.0b013e318036a569DOI Listing
April 2007

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.

Mol Genet Metab 2006 Dec 17;89(4):332-8. Epub 2006 Aug 17.

Department of Clinical Biochemistry, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.06.009DOI Listing
December 2006

Urinary cystatin C as a specific marker of tubular dysfunction.

Clin Chem Lab Med 2006 ;44(3):288-91

Biochemistry Laboratory, AP-HP Bicêtre University Hospital, Le Kremlin-Bicêtre, France.

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https://www.degruyter.com/view/j/cclm.2006.44.issue-3/cclm.2
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http://dx.doi.org/10.1515/CCLM.2006.050DOI Listing
June 2006

First characterization of a large deletion of the PDHA 1 gene.

Mol Genet Metab 2005 Dec 25;86(4):456-61. Epub 2005 Oct 25.

Laboratoire de Biochimie 1, AP-HP hôpital de Bicêtre, France.

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http://dx.doi.org/10.1016/j.ymgme.2005.08.009DOI Listing
December 2005