PubRank

P de Lonlay

Author PubWeight™ 64.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997 4.26
2 Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 1999 1.63
3 Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998 1.58
4 Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics 2001 1.53
5 Efficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J 1998 1.46
6 Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet 1999 1.42
7 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 2003 1.30
8 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet 1998 1.28
9 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet 2010 1.27
10 Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. Neuropediatrics 2006 1.21
11 Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 1998 1.20
12 Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis 2006 1.17
13 The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 2003 1.16
14 Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. J Clin Endocrinol Metab 2008 1.14
15 Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 1999 1.14
16 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab 2011 1.10
17 Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab 2011 1.09
18 Posterior fossa imaging in 158 children with ataxia. J Neuroradiol 2010 1.09
19 A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet 1998 1.07
20 The surgical management of congenital hyperinsulinemic hypoglycemia in infancy. J Pediatr Surg 2004 0.99
21 Long-term outcome in methylmalonic aciduria: a series of 30 French patients. Mol Genet Metab 2009 0.97
22 Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol 2001 0.96
23 Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet 2010 0.95
24 Increased paternal age in CHARGE association. Clin Genet 1996 0.93
25 A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 2010 0.93
26 Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. J Med Genet 2000 0.93
27 Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol 2002 0.93
28 Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab 2005 0.92
29 A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet 1999 0.91
30 The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr 1999 0.89
31 The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab 2009 0.89
32 Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet 2005 0.87
33 A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome. Biochim Biophys Acta 2012 0.86
34 Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement. Clin Genet 1999 0.86
35 Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. Mol Genet Metab 2013 0.85
36 Acute psychosis in propionic acidemia: 2 case reports. J Child Neurol 2013 0.85
37 Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A 2009 0.85
38 Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 1998 0.85
39 Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 2008 0.84
40 Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). Dev Med Child Neurol 2004 0.84
41 Development of liver disease despite mannose treatment in two patients with CDG-Ib. Mol Genet Metab 2007 0.84
42 Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics 2003 0.84
43 Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. Mol Genet Metab 2008 0.84
44 Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia. Glycobiology 2000 0.84
45 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 0.83
46 Respiratory chain deficiency in Alpers syndrome. Neuropediatrics 2001 0.83
47 Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. Diabetes Metab 2006 0.83
48 [Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]. Arch Pediatr 2012 0.83
49 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency. Mol Genet Metab 2007 0.82
50 Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. J Med Genet 2002 0.82
51 Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. Mol Genet Metab 2009 0.81
52 Variable outcome of growth hormone administration in respiratory chain deficiency. Mol Genet Metab 2007 0.79
53 Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase. Mol Genet Metab 2010 0.78
54 [Hereditary metabolic diseases in adults]. Rev Med Interne 1998 0.78
55 Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency. JIMD Rep 2011 0.78
56 [Failure to thrive and intestinal diseases in congenital disorders of glycosylation]. Arch Pediatr 2003 0.78
57 Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). J Med Genet 2009 0.77
58 Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism. Horm Res 2000 0.77
59 [Prenatal symptoms and diagnosis of inherited metabolic diseases]. Arch Pediatr 2012 0.77
60 Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture. J Inherit Metab Dis 2012 0.77
61 Mitochondrial ND5 mutations mimicking brainstem tectal glioma. Neurology 2010 0.76
62 Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis. J Inherit Metab Dis 2000 0.76
63 [Enzyme replacement therapy for lysosomal storage disorders]. Arch Pediatr 2011 0.76
64 Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. Eur J Pediatr 2000 0.76
65 Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12). J Inherit Metab Dis 2009 0.76
66 Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction. Diabetologia 2009 0.75
67 Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. Am J Transplant 2015 0.75
68 Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. Clin Genet 2014 0.75
69 [Neonatal epilepsy and inborn errors of metabolism]. Arch Pediatr 2005 0.75
70 [Metabolic emergencies: diagnostic algorithm of lactic acidosis]. Arch Pediatr 2009 0.75
71 [Metabolic and genetic investigations in childhood cardiomyopathies]. Arch Mal Coeur Vaiss 1999 0.75
72 [Remission of severe hypoglycemic incidents in young diabetic children treated with subcutaneous infusion]. Arch Pediatr 1996 0.75
73 [Congenital hyperinsulinism in newborn and infant]. Arch Pediatr 2005 0.75
74 [Congenital hyperinsulinism of infancy: surgical treatment in 60 cases of focal form]. Arch Pediatr 2005 0.75
75 [Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I]. Ann Dermatol Venereol 1998 0.75
76 [Monoamine decarboxylase deficiency]. Arch Pediatr 1996 0.75