Published in Pediatr Res on September 01, 2007
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis (2015) 0.99
Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis (2008) 0.98
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit Metab Dis (2015) 0.95
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis (2009) 0.94
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis (2008) 0.92
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
False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency. J Inherit Metab Dis (2009) 0.89
Membrane translocation of glutaric acid and its derivatives. J Inherit Metab Dis (2008) 0.88
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. J Inherit Metab Dis (2013) 0.86
Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China. Med Sci Monit (2011) 0.84
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. JIMD Rep (2015) 0.83
Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis (2015) 0.82
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I. Orphanet J Rare Dis (2015) 0.81
(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites. J Inherit Metab Dis (2015) 0.81
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep (2015) 0.78
Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J (2013) 0.78
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases. J Inherit Metab Dis (2014) 0.77
Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series. JIMD Rep (2014) 0.76
Newborn screening: how are we travelling, and where should we be going? J Inherit Metab Dis (2011) 0.76
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry. J Inherit Metab Dis (2010) 0.76
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. J Inherit Metab Dis (2015) 0.75
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1. J Inherit Metab Dis (2011) 0.75
Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry. Mol Genet Metab Rep (2015) 0.75
Treatment strategies for acute metabolic disorders in neonates. Sudan J Paediatr (2011) 0.75
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr (2016) 0.75
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. Orphanet J Rare Dis (2017) 0.75
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. JIMD Rep (2016) 0.75
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis (2016) 0.75
A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform (2013) 3.60
Principles of pediatric emergency care. Dtsch Arztebl Int (2009) 3.14
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
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
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain (2013) 2.09
Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature. Dev Med Child Neurol (2014) 1.95
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet (2005) 1.87
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 1.86
Feasibility study and control values of transient elastography in healthy children. Eur J Pediatr (2011) 1.80
Abnormal myelination in Angelman syndrome. Eur J Paediatr Neurol (2008) 1.79
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. Diabetes (2005) 1.75
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
Design principles for virtual patients: a focus group study among students. Med Educ (2009) 1.48
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis (2013) 1.45
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis (2012) 1.44
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. J Inherit Metab Dis (2011) 1.44
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res (2007) 1.44
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis (2012) 1.41
Management of diabetes mellitus in infants. Nat Rev Endocrinol (2011) 1.40
Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur J Pediatr (2002) 1.39
The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis (2010) 1.37
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis (2012) 1.34
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis (2006) 1.32
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol (2010) 1.31
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics (2007) 1.31
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (2009) 1.27
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Mutat (2009) 1.26
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis (2010) 1.26
Mevalonate kinase deficiency and autoinflammatory disorders. N Engl J Med (2007) 1.26
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience. J Child Neurol (2013) 1.24
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J (2006) 1.23
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis (2012) 1.23
SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data. PLoS One (2012) 1.22
Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab (2011) 1.22
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet (2012) 1.21
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain (2009) 1.20
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. Am J Med Genet A (2005) 1.19
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. Diabetes Care (2011) 1.19
Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat (2007) 1.19
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet (2012) 1.18
NPC-db, a Niemann-Pick type C disease gene variation database. Hum Mutat (2008) 1.17
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood (2002) 1.16
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab (2007) 1.16
Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab (2010) 1.15
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways. Traffic (2008) 1.13
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet (2011) 1.13
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat (2008) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol (2003) 1.12
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain (2010) 1.11
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest (2002) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem (2005) 1.09
Vitamin D deficiency in healthy children in a sunny country: associated factors. Int J Food Sci Nutr (2008) 1.09
Neonatal screening for citrullinaemia. Eur J Pediatr (2003) 1.08
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA. Mol Cell Probes (2007) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr (2009) 1.07
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online (2005) 1.07
Determinants of blood pressure in preschool children: the role of parental smoking. Circulation (2011) 1.07