Published in JIMD Rep on July 06, 2012
Emerging regulatory paradigms in glutathione metabolism. Adv Cancer Res (2014) 0.85
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition. Eur J Pediatr (2014) 0.80
Whole-genome sequence of the C57L/J mouse inbred strain. G3 (Bethesda) (2014) 0.78
Basic local alignment search tool. J Mol Biol (1990) 659.07
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum Mol Genet (1997) 1.36
Glutathione synthetase deficiency. Cell Mol Life Sci (2005) 1.19
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Nat Genet (1996) 1.10
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency. Clin Genet (1999) 1.09
A molecular approach to dominance in hypophosphatasia. Hum Genet (2001) 1.04
Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis (2007) 1.03
Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency. Eur J Pediatr (1997) 0.99
OXP1/YKL215c encodes an ATP-dependent 5-oxoprolinase in Saccharomyces cerevisiae: functional characterization, domain structure and identification of actin-like ATP-binding motifs in eukaryotic 5-oxoprolinases. FEMS Yeast Res (2010) 0.95
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet (2005) 0.93
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. Proc Natl Acad Sci U S A (2011) 0.89
5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle. Acta Paediatr Scand (1981) 0.88
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene. Hum Mutat (2003) 0.88
Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity. J Inherit Metab Dis (1981) 0.85
5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia. J Inherit Metab Dis (1995) 0.84
Deficiency of 5-oxoprolinase in an 8-year-old with developmental delay. J Inherit Metab Dis (1996) 0.84
Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment. J Inherit Metab Dis (2005) 0.84
5-Oxoprolinuria associated with 5-oxoprolinase deficiency; further evidence that this is a benign disorder. J Inherit Metab Dis (1993) 0.84
5-Oxoprolinase deficiency: report of the first human OPLAH mutation. Clin Genet (2011) 0.84
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities. J Inherit Metab Dis (2006) 0.84
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. FASEB J (2005) 1.97
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation. J Neurol Sci (2006) 1.95
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet (2001) 1.74
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy (2009) 1.65
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency. Mov Disord (2013) 1.53
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. Dev Med Child Neurol (2013) 1.50
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain (2009) 1.44
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44
Hyperlactatemia in human immunodeficiency virus-infected children receiving antiretroviral treatment. Pediatr Infect Dis J (2003) 1.42
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis (2006) 1.34
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet (2009) 1.29
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum (2011) 1.21
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab (2008) 1.17
De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol (2008) 1.17
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab (2007) 1.16
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet (2005) 1.15
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol (2006) 1.12
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain (2003) 1.12
Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum Mol Genet (2005) 1.11
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Mol Biol Evol (2003) 1.11
Hyperlactatemia in human immunodeficiency virus-uninfected infants who are exposed to antiretrovirals. Pediatrics (2004) 1.10
Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species. Appl Environ Microbiol (2011) 1.10
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up. Mov Disord (2010) 1.08
Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab (2005) 1.08
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes. Clin Biochem (2008) 1.07
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
Influence of milk-feeding type and genetic risk of developing coeliac disease on intestinal microbiota of infants: the PROFICEL study. PLoS One (2012) 1.04
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies. BMC Genomics (2014) 1.04
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology (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
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun (2008) 1.03
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
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics (2013) 1.00
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord (2012) 0.97
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features. Mitochondrion (2010) 0.97
Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis (2011) 0.96
Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains. Brain Struct Funct (2012) 0.95
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis (2011) 0.95
Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue. BMC Genomics (2010) 0.95
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain (2008) 0.95
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population. Clin Chim Acta (2006) 0.94
PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells. PLoS One (2012) 0.93
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol (2005) 0.91
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis (2010) 0.91
Mitochondrial pathophysiology in Friedreich's ataxia. J Neurochem (2013) 0.91
Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry. Neurobiol Dis (2013) 0.91
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J Neurol (2011) 0.91
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol (2008) 0.90
Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug Discov Today (2012) 0.89
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. J Child Neurol (2009) 0.88
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Hum Mutat (2003) 0.88
Mitochondrial diseases mimicking neurotransmitter defects. Mitochondrion (2008) 0.88
Oral insulin-mimetic compounds that act independently of insulin. Diabetes (2007) 0.88
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Arch Neurol (2011) 0.88
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J Peripher Nerv Syst (2010) 0.88
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. Cerebellum (2007) 0.87
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation. J Inherit Metab Dis (2010) 0.87
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet (2010) 0.87
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
Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. Haematologica (2003) 0.86
Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria? Clin Biochem (2005) 0.86
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. Hum Mol Genet (2013) 0.86
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics (2012) 0.85
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). Clin Biochem (2008) 0.85
Provision and quality assurance of preimplantation genetic diagnosis in Europe. Eur J Hum Genet (2007) 0.85