Search Results - "Labrune, P."

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Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.

Authors: Labrune, P. Zittoun, J. Duvaltier, I. et al.

Source: European Journal of Pediatrics. 1999, Vol. 158 Issue 9, p734-739. 6p.

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Découverte d'une hépatomégalie

Alternate Title: Hepatomegaly: diagnosis approach

Authors: Labrune, P. Trioche-Eberschweiler, P. Mollet-Boudjemline, A. et al.

Source: Archives de Pédiatrie. Jun2007, Vol. 14 Issue 6, p573-575. 3p.

Common Variants in FTO, MC4R, TMEM18, PRL, AIF1, and PCSK1 Show Evidence of Association With Adult Obesity in the Greek Population.

Authors: Rouskas, Konstantinos Kouvatsi, Anastasia Paletas, Konstantinos et al.

Source: Obesity (19307381). Feb2012, Vol. 20 Issue 2, p389-395.

Lack of Association of CD36 SNPs With Early Onset Obesity: A Meta-Analysis in 9,973 European Subjects.

Authors: Choquet, Hélène Labrune, Yann De Graeve, Franck et al.

Source: Obesity (19307381). Apr2011, Vol. 19 Issue 4, p833-839.

Subchondral bone alterations in a novel model of intermediate post traumatic osteoarthritis in mice.

Authors: Manitta, L. Labrune, M. Olive, L. et al.

Source: Journal of Biomechanics. Sep2022, Vol. 142, pN.PAG-N.PAG.

Hypogonadisme hypergonadotrophique et galactosémie congénitale

Alternate Title: Hypergonadotrophic hypogonadism and congenital galactosemia

Authors: Odièvre, M.-H. Labrune, P. Odièvre, M.

Source: Archives de Pédiatrie. Jun2008, Vol. 15 Issue 6, p1124-1125. 2p.

P1213 : Adeno-associated virus vector-mediated liver gene therapy for Crigler-Najjar syndrome.

Authors: Bosma, P. Labrune, P. Brunetti-Pierri, N. et al.

Source: Journal of Hepatology. Apr2015 Supplement 2, Vol. 62, pS812-S812. 1p.

257 MOLECULAR CHARACTERISATION OF HEPATOCELLULAR ADENOMAS DEVELOPED IN PATIENTS WITH GLYCOGENOSIS TYPE I

Authors: Calderaro, J. Labrune, P. Franco, D. et al.

Source: Journal of Hepatology. Apr2012 Supplement, Vol. 56 Issue s2, pS108-S108. 1p.

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.

Authors: Valayannopoulos V Michot C Rodriguez D et al.

Source: Brain: A Journal of Neurology; Jan2012, Vol. 135 Issue 1, pe199-e199, 1p

G.P.1 04 Clinical features and diagnostic tools in adults with debrancher deficiency (glycogen storage disease type III)

Authors: Nadaj-Pakleza, A. Labrune, P. Wary, C. et al.

Source: Neuromuscular Disorders. Oct2006, Vol. 16 Issue 9/10, p655-655. 1p.

337. Intensive dietary therapy improves but does not correct glycogen storage disease type I.

Authors: Rake, J.P. Visser, G. Labrune, P.

Source: Kidney. May/Jun2003, Vol. 12 Issue 3, p119. 2p.

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.

Authors: Weinstein, DA Jackson, RJ Brennan, EA et al.

Source: Orphanet Journal of Rare Diseases. 8/30/2024, Vol. 19 Issue 1, p1-1. 1p.

Des mutations au sein du ge`ne RAI1 (retinoic acid induced 1) chez des enfants atteints de syndrome de Smith-Magenis

Authors: Labrune, P.¹

Source: Archives de Pédiatrie. Dec2003, Vol. 10 Issue 12, p1094. 2p.

De´le´tion te´lome´rique cryptique du chromosome 9q34 : un nouvel exemple de pathologie des te´lome`res ?

Authors: Labrune, P.¹

Source: Archives de Pédiatrie. Dec2003, Vol. 10 Issue 12, p1089. 2p.

428PGait analysis with trunk accelerometry in patients from the French registry of glycogen storage disease type III: implications for clinical trials.

Authors: Hogrel, J. Fer, F. Ledoux, I. et al.

Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.

Analyse de la racine du cheveu pour pre´dire le phe´notype mental chez les femmes porteuses du syndrome de l’X fragile

Authors: Labrune, P.¹

Source: Archives de Pédiatrie. Dec2003, Vol. 10 Issue 12, p1096. 1p.

Localisation d’un ge`ne en cause dans la dystrophie thoracique asphyxiante (syndrome de Jeune)

Authors: Labrune, P.¹

Source: Archives de Pédiatrie. Dec2003, Vol. 10 Issue 12, p1095. 1p.

Diagnostic ge´ne´tique pre´-implantatoire de la chore´e de Huntington sans savoir si le parent « a` risque » est atteint

Authors: Labrune, P.¹

Source: Archives de Pédiatrie. Feb2003, Vol. 10 Issue 2, p170. 1p.