Publications by authors named "Allel Chabli"

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Obstructive sleep apnea syndrome after hematopoietic stem cell transplantation in children with mucopolysaccharidosis type I.
Johan Moreau, Anais Brassier, Alessandro Amaddeo, Benedicte Neven, Catherine Caillaud, Allel Chabli

Mol Genet Metab· December 2015

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Creatine and guanidinoacetate reference values in a French population.
Marie Joncquel-Chevalier Curt, David Cheillan, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Allel Chabli

Mol Genet Metab· November 2013

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Natural history of Barth syndrome: a national cohort study of 22 patients.
Charlotte Rigaud, Anne-Sophie Lebre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, Allel Chabli

Orphanet J Rare Dis· May 2013

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Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Vassili Valayannopoulos, Naziha Bakouh, Michel Mazzuca, Luc Nonnenmacher, Laurence Hubert, Allel Chabli

J Inherit Metab Dis· January 2013

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Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.
Adrien Jézégou, Elisa Llinares, Christine Anne, Sylvie Kieffer-Jaquinod, Seana O'Regan, Allel Chabli

Proc Natl Acad Sci U S A· December 2012

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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, Gajja S Salomons, Karine Mention-Mulliez, Allel Chabli

Orphanet J Rare Dis· December 2012

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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Vassili Valayannopoulos, Nathalie Boddaert, Allel Chabli, Valerie Barbier, Isabelle Desguerre

J Inherit Metab Dis· January 2012

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Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
Frédéric Sedel, Karen Friderici, Katherine Nummy, Catherine Caillaud, Allel Chabli

Arch Neurol· January 2006

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Altered gene expression in liver from a murine model of hyperhomocysteinemia.
Karine Robert, Jean-François Chassé, Dominique Santiard-Baron, Catherine Vayssettes, Allel Chabli

J Biol Chem· August 2003

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Endogenous hydrogen sulfide overproduction in Down syndrome.
Pierre Kamoun, Maria-Cristina Belardinelli, Allel Chabli, Karim Lallouchi, Bernadette Chadefaux-Vekemans

Am J Med Genet A· January 2003

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Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome.
Bernadette Chadefaux-Vekemans, Marie Coudé, François Muller, Jean François Oury, Allel Chabli

Pediatr Res· June 2002

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