PubRank

Philippe Labrune

Author PubWeight™ 38.20‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002 2.21
2 Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 2002 1.54
3 Lentiviral vectors that express UGT1A1 in liver and contain miR-142 target sequences normalize hyperbilirubinemia in Gunn rats. Gastroenterology 2010 1.48
4 Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 2011 1.28
5 GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation. J Hepatol 2011 1.25
6 Glucose-6-phosphatase deficiency. Orphanet J Rare Dis 2011 1.12
7 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 2011 1.06
8 Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol 2012 1.05
9 Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 2002 1.02
10 Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr 2002 1.02
11 Severe pulmonary arterial hypertension in type 1 glycogen storage disease. Eur J Pediatr 2002 1.01
12 Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet 2012 0.93
13 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD Rep 2013 0.91
14 Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Mol Genet Metab 2011 0.87
15 Is a polymorphism of the apolipoprotein E gene associated with preeclampsia? Hypertens Pregnancy 2002 0.87
16 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 0.86
17 Effectiveness of chest physiotherapy in infants hospitalized with acute bronchiolitis: a multicenter, randomized, controlled trial. PLoS Med 2010 0.85
18 Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. Am J Med Genet A 2007 0.85
19 Further evidence that the UGT1A1*28 allele is not associated with coronary heart disease: The ECTIM Study. Clin Chem 2006 0.84
20 Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. Mol Genet Metab 2012 0.84
21 The Tunisian population history through the Crigler-Najjar type I syndrome. Eur J Hum Genet 2008 0.84
22 Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. Eur J Hum Genet 2005 0.83
23 Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4. Brain 2011 0.83
24 Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy. Neuromuscul Disord 2010 0.82
25 Contraception and pregnancy in women affected by glycogen storage diseases. Eur J Pediatr 2002 0.82
26 Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene. Mol Genet Metab 2006 0.82
27 Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia. J Pediatr Gastroenterol Nutr 2003 0.81
28 Late-onset and recurrent neonatal Streptococcus agalactiae infection with ingestion of infected mother's milk. Eur J Obstet Gynecol Reprod Biol 2006 0.80
29 Successful pregnancy in a Crigler-Najjar type I patient treated by phototherapy and semimonthly albumin infusions. Gastroenterology 2006 0.79
30 Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? Mol Genet Metab 2013 0.79
31 Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department. BMC Pediatr 2014 0.78
32 Perioperative management of hemostasis for surgery of benign hepatic adenomas in patients with glycogen storage disease type ia. JIMD Rep 2011 0.78
33 Recurring acute abdominal pains in an adolescent as the presenting manifestations of hereditary angioneurotic oedema. Acta Paediatr 2005 0.77
34 Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. Prenat Diagn 2006 0.77
35 Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). Prenat Diagn 2002 0.77
36 A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome. Eur J Hum Genet 2008 0.77
37 Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. Hum Mutat 2002 0.77
38 Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism. Eur J Hum Genet 2010 0.76
39 Successful plasmapheresis for acute and severe unconjugated hyperbilirubinemia in a child with crigler najjar type I syndrome. JIMD Rep 2011 0.76
40 Absence of specific facial dysmorphy in glycogen storage disease type III. Clin Dysmorphol 2003 0.75
41 Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al. Haematologica 2007 0.75
42 Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. J Inherit Metab Dis 2014 0.75
43 Early and rapid prenatal diagnosis of monosomy 2q36.1 in trophoblast cells. Fetal Diagn Ther 2006 0.75
44 First autochthonous familial cluster of invasive community-acquired leukocidin-positive methicillin-resistant USA300 Staphylococcus aureus in France. Folia Microbiol (Praha) 2014 0.75
45 Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib. J Inherit Metab Dis 2010 0.75
46 Abdominal pain and ketonuria in an 11-year-old girl five months after abdominal trauma. J Pediatr Surg 2002 0.75
47 Progressive neuronal degeneration of childhood: prenatal diagnosis by MRI. Prenat Diagn 2005 0.75
48 Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. Hum Mutat 2002 0.75
49 Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome. Haematologica 2008 0.75
50 Correction of hyperbilirubinemia in gunn rats by surgical delivery of low doses of helper-dependent adenoviral vectors. Hum Gene Ther Methods 2014 0.75