Published in Med Clin (Barc) on July 12, 2011
The Biotinidase Gene Variants Registry: A Paradigm Public Database. G3 (Bethesda) (2013) 1.04
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis (2014) 1.73
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet (2011) 1.57
The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta (2009) 1.35
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain (2010) 1.28
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A (2004) 1.28
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat (2004) 1.19
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab (2008) 1.17
Effects of rapid global warming at the Paleocene-Eocene boundary on neotropical vegetation. Science (2010) 1.16
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Hum Mutat (2009) 1.08
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab (2005) 1.08
School performance in early and continuously treated phenylketonuria. Pediatr Neurol (2005) 1.05
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem (2007) 1.05
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat (2003) 1.04
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. Epilepsia (2013) 1.04
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods (2005) 1.03
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. Hum Mutat (2012) 1.02
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat (2014) 1.01
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. Hum Mutat (2013) 1.00
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res (2005) 1.00
Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients. Mol Genet Metab (2005) 1.00
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. J Inherit Metab Dis (2012) 0.98
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin Biochem (2008) 0.98
Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab (2005) 0.98
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis (2014) 0.97
Taurine detection by proton magnetic resonance spectroscopy in medulloblastoma: contribution to noninvasive differential diagnosis with cerebellar astrocytoma. Neurosurgery (2004) 0.97
A glimpse into past, present, and future DNA sequencing. Mol Genet Metab (2013) 0.97
Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. J Chromatogr B Analyt Technol Biomed Life Sci (2007) 0.97
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord (2005) 0.97
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form. Mol Genet Metab (2008) 0.97
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis (2011) 0.95
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Mol Genet Metab (2005) 0.95
Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis. Clin Chim Acta (2006) 0.94
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin Chim Acta (2006) 0.94
Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis (2010) 0.92
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol (2005) 0.91
Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. Hum Mutat (2012) 0.91
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab Dis (2014) 0.91
Propionic acidemia: unusual course with late onset and fatal outcome. Metabolism (2004) 0.90
Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. Pediatr Neurol (2007) 0.90
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency. Eur J Hum Genet (2010) 0.90
Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab (2004) 0.90
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem (2003) 0.89
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome? Am J Med Genet A (2006) 0.89
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. BMC Nephrol (2013) 0.89
Craniectomy in herpetic encephalitis. Pediatr Neurol (2008) 0.89
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol (2009) 0.88
New splicing mutations in propionic acidemia. J Hum Genet (2006) 0.88
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. J Inherit Metab Dis (2012) 0.88
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol (2003) 0.88
Infectious acute hemicerebellitis. J Child Neurol (2004) 0.88
The cognitive effects of oxcarbazepine versus carbamazepine or valproate in newly diagnosed children with partial seizures. Seizure (2007) 0.87
Chronic viral hepatitis, interferon, diabetes mellitus, and celiac disease. Am J Gastroenterol (2003) 0.87
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J Inherit Metab Dis (2010) 0.87
Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit. Mol Genet Metab (2011) 0.87
Mutational spectrum of maple syrup urine disease in Spain. Hum Mutat (2006) 0.86
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat (2009) 0.86
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. Hum Mutat (2010) 0.86
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria? Clin Biochem (2005) 0.86
Minigenes to confirm exon skipping mutations. Methods Mol Biol (2012) 0.86
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. Mol Genet Metab (2012) 0.86
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? Mol Genet Metab (2011) 0.85
Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines. Clin Biochem (2008) 0.85
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab (2010) 0.84
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Mitochondrion (2010) 0.84
Hyperammonaemia as a cause of psychosis in an adolescent. Eur J Pediatr (2003) 0.84
Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem (2004) 0.83
Defining the pathogenicity of creatine deficiency syndrome. Hum Mutat (2011) 0.83
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Mol Genet Metab (2009) 0.83
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. J Proteome Res (2006) 0.83
Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. Mol Genet Metab (2011) 0.83