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2011

 

116. Joseph J. Fattening by deprivation: methyl balance and perinatal cardiomyopathy. J Pathol. 2011 Nov;225(3):315-7.

 

117. Forges T, Monnier P, Leheup B, Cheillan D, Brivet M, Barbarino A, et al. Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia. Fertil Steril. 2011 Jan;95(1):290 e1-3.

 

118. Garcia MM, Gueant-Rodriguez RM, Pooya S, Brachet P, Alberto JM, Jeannesson E, et al. Methyl donor deficiency induces cardiomyopathy through altered methylation/acetylation of PGC-1alpha by PRMT1 and SIRT1. J Pathol. 2011 Nov;225(3):324-35.

 

119. Javier RM, Hachulla E, Rose C, Gressin V, Cherin P, Noel E, et al. Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). Osteoporos Int. 2011 Apr;22(4):1255-61.

120. Sudour H, Schmitt C, Contet A, Chastagner P, Feillet F. Acute metabolic encephalopathy in two patients treated with asparaginase and ondasetron. Am J Hematol. 2011 Mar;86(3):323-5.

 

121. Heron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A. 2011 Jan;155A(1):58-68.

 

122. Namour F, Dobrovoljski G, Chery C, Audonnet S, Feillet F, Sperl W, et al. Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. Haematologica. 2011 Jul 12.

 

123. Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, et al. Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab. 2011 Aug;103(4):341-8.

 

124. Kimmoun A, Munagamage G, Dessalles N, Gerard A, Feillet F, Levy B. Unexpected awakening from comatose thyroid storm after a single intravenous injection of L: -carnitine. Intensive Care Med. 2011 Oct;37(10):1716-7.

 

125. Maupetit-Mehouas S, Mariot V, Reynes C, Bertrand G, Feillet F, Carel JC, et al. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib. J Med Genet. 2011 Jan;48(1):55-63.

 

126. Macdonald A, Rocha JC, van Rijn M, Feillet F. Nutrition in phenylketonuria. Mol Genet Metab. 2011 Sep 2.

 

127. Blanchet E, Bertrand C, Annicotte JS, Schlernitzauer A, Pessemesse L, Levin J, et al. Mitochondrial T3 receptor p43 regulates insulin secretion and glucose homeostasis. FASEB J. 2011 Sep 13.

 

128. Lidove O, Kaminsky P, Hachulla E, Leguy-Seguin V, Lavigne C, Marie I, et al. Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). Clin Genet. 2011 May 30.

 

129. Mercier-Jacquier M, Bronowicki JP, Raabe JJ, Jacquier A, Kaminsky P. [Wilson's disease in an adult]. Rev Med Interne. 2011 Jun;32(6):341-6.

 

130. Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, et al. Clinical and biochemical heterogeneity associated with fumarase deficiency. Hum Mutat. 2011 May 10.

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