Published in Pediatrics on November 01, 2003
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab (2008) 1.73
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet (2008) 1.16
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res (2005) 1.06
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2010) 1.04
Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab (2008) 1.03
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur J Hum Genet (2010) 0.87
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. J Inherit Metab Dis (2010) 0.82
A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis. Indian J Clin Biochem (2011) 0.82
A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD). Biochem Med (Zagreb) (2015) 0.80
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. Hum Genet (2010) 0.80
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. J Inherit Metab Dis (2010) 0.77
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. Korean J Pediatr (2016) 0.75
A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27
Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem (2006) 3.59
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87
Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab (2009) 2.78
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis (2010) 2.47
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology (2014) 2.19
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet (2002) 2.17
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation (2007) 2.15
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
Carnitine biosynthesis in mammals. Biochem J (2002) 2.13
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria. J Cell Biol (2008) 2.06
Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta (2004) 2.04
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol (2004) 1.90
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82
L-serine in disease and development. Biochem J (2003) 1.79
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. Clin Chem (2004) 1.73
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Hum Genet (2002) 1.69
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. Circulation (2011) 1.65
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum (2006) 1.62
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes (2004) 1.60
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics (2002) 1.59
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain (2007) 1.55
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem (2003) 1.54
'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases. Arch Dis Child (2010) 1.54
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis (2011) 1.54
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood (2008) 1.54
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J (2008) 1.51
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta (2006) 1.51
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab (2004) 1.50
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet (2004) 1.50
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
Follow-up of children diagnosed with familial hypercholesterolemia in a national genetic screening program. J Pediatr (2012) 1.46
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood (2011) 1.45
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemia. J Pediatr (2011) 1.42
Myeloid dysplasia in familial 3-methylglutaconic aciduria. J Pediatr Hematol Oncol (2006) 1.42
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics (2007) 1.41
Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol (2006) 1.41
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem (2004) 1.39
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat (2003) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia. Cancer Res (2006) 1.32
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum (2002) 1.30
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis (2010) 1.29
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet (2006) 1.27
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
Protein misfolding and cellular stress: an overview. Methods Mol Biol (2010) 1.26
Living with classical galactosemia: health-related quality of life consequences. Pediatrics (2004) 1.26
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med (2010) 1.26
Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) (2011) 1.24
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat (2011) 1.23
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol (2008) 1.22
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet (2005) 1.22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem (2003) 1.21
Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta (2009) 1.20
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem (2002) 1.20
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis (2010) 1.19