PubRank

C Pérez-Cerdá

Author PubWeight™ 23.88‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis 2007 1.25
2 Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab 2004 1.17
3 Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 1999 1.07
4 Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. Am J Hum Genet 1996 0.99
5 Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients. Hum Genet 1997 0.96
6 Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol 2008 0.95
7 Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1999 0.94
8 The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet 2001 0.93
9 Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria. Mol Genet Metab 2003 0.92
10 Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. Hum Mutat 2002 0.92
11 Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. Am J Hum Genet 1998 0.91
12 Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. Mol Genet Metab 2001 0.88
13 Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency. Neuropediatrics 1995 0.85
14 A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome. J Inherit Metab Dis 1984 0.82
15 Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. Neuropediatrics 2002 0.82
16 A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients. Arch Biochem Biophys 1998 0.81
17 The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations. JIMD Rep 2011 0.81
18 Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG. Clin Genet 2014 0.80
19 Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein. Biochim Biophys Acta 1999 0.80
20 Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. Clin Genet 2013 0.79
21 Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J Inherit Metab Dis 2006 0.79
22 New frequent mutation in the PCCB gene in Spanish propionic acidemia patients. Hum Mutat 1998 0.77
23 [Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin]. An Pediatr (Barc) 2009 0.77
24 Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course. J Inherit Metab Dis 1996 0.77
25 Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains. J Inherit Metab Dis 2000 0.76
26 Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online. Hum Mutat 1999 0.75
27 Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. Prenat Diagn 1998 0.75
28 Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. JIMD Rep 2012 0.75
29 [Human fibroblast bank for studying amino acid disorders and organic acidemias]. Rev Esp Fisiol 1982 0.75
30 Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis. Prenat Diagn 1989 0.75
31 Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism. Nucleosides Nucleotides Nucleic Acids 2014 0.75
32 Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. Gene 2013 0.75
33 Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits. Mol Genet Metab 2002 0.75