Published in J Pediatr on January 01, 1986
Peroxisomal bifunctional enzyme deficiency. J Clin Invest (1989) 2.11
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci U S A (1987) 1.98
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet (1988) 1.59
Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids. J Clin Invest (1987) 1.32
Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts. J Inherit Metab Dis (1995) 1.31
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A (1998) 1.09
Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Am J Hum Genet (1994) 0.97
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation. J Inherit Metab Dis (1988) 0.96
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells. J Inherit Metab Dis (1995) 0.95
Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome). Proc Natl Acad Sci U S A (1986) 0.93
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. Am J Hum Genet (2002) 0.92
Zellweger syndrome and associated phenotypes. J Med Genet (1996) 0.90
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. J Clin Invest (1990) 0.88
Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders. J Inherit Metab Dis (2001) 0.87
Inherited peroxisomal disorders involving the nervous system. Arch Dis Child (1988) 0.86
Organelle pathology in metabolic neuromuscular disease: an overview. Can J Vet Res (1990) 0.83
Prenatal and perinatal diagnosis of peroxisomal disorders. J Inherit Metab Dis (1989) 0.82
Clinical approach to inherited peroxisomal disorders. J Inherit Metab Dis (1995) 0.82
Metabolism of saturated and polyunsaturated very-long-chain fatty acids in fibroblasts from patients with defects in peroxisomal beta-oxidation. Biochem J (1990) 0.81
Peroxisomal multifunctional protein-2 deficiency causes motor deficits and glial lesions in the adult central nervous system. Am J Pathol (2006) 0.81
Peroxisomal disorders: clinical characterization. J Inherit Metab Dis (1987) 0.80
Metabolism of prostaglandin F2 alpha in Zellweger syndrome. Peroxisomal beta-oxidation is a major importance for in vivo degradation of prostaglandins in humans. J Clin Invest (1991) 0.80
Practical guide for morphometry of human peroxisomes on electron micrographs. J Inherit Metab Dis (1995) 0.77
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. J Inherit Metab Dis (1987) 0.77
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids. J Inherit Metab Dis (1997) 0.75
Dysmorphic syndromes with demonstrable biochemical abnormalities. J Med Genet (1988) 0.75
The Roles of β-oxidation and Cofactor Homeostasis in Peroxisome Distribution and Function in Arabidopsis thaliana. Genetics (2016) 0.75
A small cosmid for efficient cloning of large DNA fragments. Gene (1980) 22.61
Cosmids: a type of plasmid gene-cloning vector that is packageable in vitro in bacteriophage lambda heads. Proc Natl Acad Sci U S A (1978) 16.33
An Nrf2/small Maf heterodimer mediates the induction of phase II detoxifying enzyme genes through antioxidant response elements. Biochem Biophys Res Commun (1997) 14.09
Keap1 represses nuclear activation of antioxidant responsive elements by Nrf2 through binding to the amino-terminal Neh2 domain. Genes Dev (1999) 13.43
A protein conjugation system essential for autophagy. Nature (1998) 12.71
Commentary. Lysosomotropic agents. Biochem Pharmacol (1974) 12.28
Mechanism of calcium gating in small-conductance calcium-activated potassium channels. Nature (1998) 4.94
Accelerated titration designs for phase I clinical trials in oncology. J Natl Cancer Inst (1997) 4.60
School-based programs to reduce sexual risk behaviors: a review of effectiveness. Public Health Rep (1994) 4.50
Molecular cloning and characterization of the rat NMDA receptor. Nature (1991) 4.45
Periodontal infection as a possible risk factor for preterm low birth weight. J Periodontol (1996) 4.02
Is chemotherapy alone adequate for young women with oestrogen-receptor-positive breast cancer? Lancet (2000) 3.79
The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord (1999) 3.77
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology (2000) 3.70
Plasmids useable as gene-cloning vectors in an in vitro packaging by coliphage lambda: "cosmids". Gene (1978) 3.66
Characterization of mouse monoclonal antibodies specific for Friend murine leukemia virus-induced erythroleukemia cells: friend-specific and FMR-specific antigens. Virology (1981) 3.61
Cloning of the complete human cytomegalovirus genome in cosmids. Gene (1982) 3.55
Body mass index as a prognostic feature in operable breast cancer: the International Breast Cancer Study Group experience. Ann Oncol (2004) 3.29
Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine. J Histochem Cytochem (1969) 3.06
Prognostic impact of amenorrhoea after adjuvant chemotherapy in premenopausal breast cancer patients with axillary node involvement: results of the International Breast Cancer Study Group (IBCSG) Trial VI. Eur J Cancer (1998) 3.03
Activation of a transposable element in the germ line but not the soma of Caenorhabditis elegans. Nature (1987) 3.00
Gonadotrophin stimulation test ovarian function. Br Med J (1968) 2.99
Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins. J Biol Chem (1999) 2.96
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science (1973) 2.91
Organization and function of an accident flying squad. Br Med J (1966) 2.88
Instability of palindromic DNA in Escherichia coli. Cold Spring Harb Symp Quant Biol (1981) 2.75
Identifying breast cancer patients at risk for Central Nervous System (CNS) metastases in trials of the International Breast Cancer Study Group (IBCSG). Ann Oncol (2006) 2.72
Escherichia coli plasmids packageable in vitro in lambda bacteriophage particles. Methods Enzymol (1979) 2.71
Fertility and ageing. Hum Reprod Update (2005) 2.68
Characterization of transgenic mice with targeted disruption of the catalytic domain of the double-stranded RNA-dependent protein kinase, PKR. J Biol Chem (1999) 2.65
Acceleration of lung disease in children with cystic fibrosis after Pseudomonas aeruginosa acquisition. Pediatr Pulmonol (2001) 2.59
The abnormalities of lysosomal enzymes in mucopolysacc- haridoses. Eur J Biochem (1968) 2.55
Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol (1966) 2.41
A family of metabotropic glutamate receptors. Neuron (1992) 2.38
Mutually exclusive expression of odorant receptor transgenes. Nat Neurosci (2000) 2.36
Sequence interruptions in enterobacterial repeated elements retain their ability to encode well-folded RNA secondary structures. Mol Microbiol (1997) 2.33
Free ribosomal DNA molecules from Tetrahymena pyriformis GL are giant palindromes. J Mol Biol (1976) 2.33
Precise and nearly-precise excision of the symmetrical inverted repeats of Tn5; common features of recA-independent deletion events in Escherichia coli. Gene (1983) 2.21
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet (1995) 2.19
The cytochemical demonstration of lysosomal aryl sulfatase activity by light and electron microscopy. J Histochem Cytochem (1966) 2.17
Epileptiform EEG abnormalities in children with language regression. Neurology (2005) 2.13
Transforming growth factor beta induces IgA production and acts additively with interleukin 5 for IgA production. J Exp Med (1989) 2.12
The demonstration of acid hydrolase, thermostable reduced diphosphopyridine nucleotide tetrazolium reductase and peroxidase activities in human lipofuscin pigment granules. J Histochem Cytochem (1966) 2.09
Safer choices: reducing teen pregnancy, HIV, and STDs. Public Health Rep (2001) 2.07
Predictors and correlates of adaptive functioning in children with developmental disorders. J Autism Dev Disord (2001) 2.06
Use of dried blood spot specimens in the detection of human immunodeficiency virus type 1 by the polymerase chain reaction. J Clin Microbiol (1991) 2.05
A unique PPARgamma ligand with potent insulin-sensitizing yet weak adipogenic activity. Mol Cell (2001) 2.02
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci U S A (1987) 1.98
Role of the putative membrane-bound endo-1,4-beta-glucanase KORRIGAN in cell elongation and cellulose synthesis in Arabidopsis thaliana. Plant Cell Physiol (2001) 1.97
Genomic paleontology provides evidence for two distinct origins of Asian rice (Oryza sativa L.). Mol Genet Genomics (2004) 1.96
A case of asthma. Br Med J (1976) 1.95
Longitudinal examination of the behavioral, language, and social changes in a population of adolescents and young adults with autistic disorder. Pediatr Neurol (1996) 1.93
Burdens and benefits of adjuvant cyclophosphamide, methotrexate, and fluorouracil and tamoxifen for elderly patients with breast cancer: the International Breast Cancer Study Group Trial VII. J Clin Oncol (2000) 1.92
Regulatory mechanisms of cellular response to oxidative stress. Free Radic Res (1999) 1.92
Identifying breast cancer patients at high risk for bone metastases. J Clin Oncol (2000) 1.91
Relationship between chromosome replication and F'lac episome replication in Escherichia coli. J Mol Biol (1973) 1.89
Treatment of hypophosphataemic vitamin D-resistant rickets with massive doses of 1 alpha-hydroxy-vitamin D3 during childhood. Arch Dis Child (1980) 1.86
Preventive effect of monoclonal anti-L3T4 antibody on development of diabetes in NOD mice. Diabetes (1987) 1.86
Heat-balling wasps by honeybees. Naturwissenschaften (2005) 1.85
Early start of adjuvant chemotherapy may improve treatment outcome for premenopausal breast cancer patients with tumors not expressing estrogen receptors. The International Breast Cancer Study Group. J Clin Oncol (2000) 1.81
A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J Biol Chem (1995) 1.81
The expression of tetracycline resistance after insertion of foreign DNA fragments between the EcoRI and HindIII sites of the plasmid cloning vector pBR 322. Mol Gen Genet (1978) 1.77
Among patients treated for IVF with gonadotrophins and GnRH analogues, is the probability of live birth dependent on the type of analogue used? A systematic review and meta-analysis. Hum Reprod Update (2006) 1.76
Global epidemiology of amyotrophic lateral sclerosis: a systematic review of the published literature. Neuroepidemiology (2013) 1.76
Gene cloning with small plasmids. Curr Top Microbiol Immunol (1977) 1.76
Risk factors for locoregional recurrence among breast cancer patients: results from International Breast Cancer Study Group Trials I through VII. J Clin Oncol (2003) 1.75
Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A (1984) 1.75
Cell-free synthesis of proteins coding for mobilisation functions of ColE1 and transposition functions of Tn3. Gene (1979) 1.74
Expression of Escherichia coli ribosomal protein and RNA polymerase genes cloned on plasmids. Mol Gen Genet (1979) 1.74
Centromere mapping and orientation of the molecular linkage map of rice (Oryza sativa L.). Proc Natl Acad Sci U S A (1996) 1.73
A new cis-acting element for RNA replication within the 5' noncoding region of poliovirus type 1 RNA. J Virol (1995) 1.70
Towards less confusing terminology in reproductive medicine: a proposal. Hum Reprod (2004) 1.70
Response to mesna, doxorubicin, ifosfamide, and dacarbazine in 108 patients with metastatic or unresectable sarcoma and no prior chemotherapy. J Clin Oncol (1989) 1.69
Microsatellite marker development, mapping and applications in rice genetics and breeding. Plant Mol Biol (1997) 1.68
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet (1995) 1.68
Crystal structures of native and inhibited forms of human cathepsin D: implications for lysosomal targeting and drug design. Proc Natl Acad Sci U S A (1993) 1.67
Structures and properties of seven isoforms of the NMDA receptor generated by alternative splicing. Biochem Biophys Res Commun (1992) 1.67
Are endogenous LH levels during ovarian stimulation for IVF using GnRH analogues associated with the probability of ongoing pregnancy? A systematic review. Hum Reprod Update (2005) 1.66
Molecular organization of the shell of the Teven bacteriophage head. J Mol Biol (1975) 1.65
Effect of systemic adjuvant treatment on first sites of breast cancer relapse. Lancet (1994) 1.64
Antenatal care of low risk obstetric patients by midwives. A randomised controlled trial. Med J Aust (1992) 1.60
Preliminary report on isolation of mycobacteria from patients with Crohn's disease. Dig Dis Sci (1989) 1.60
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet (1988) 1.59
Mechanism of aminoglycoside-induced lysosomal phospholipidosis: in vitro and in vivo studies with gentamicin and amikacin. Biochem Pharmacol (1982) 1.58
Distribution of Alzheimer's neurofibrillary changes in the brain stem and hypothalamus of senile dementia. Acta Neuropathol (1966) 1.58
Mucopolysaccharidosis by absence of alpha-fucosidase. Lancet (1968) 1.56
Nucleoside diphosphatase and thiamine pyrophosphatase activities in the endoplasmic reticulum and golgi apparatus. J Histochem Cytochem (1971) 1.56
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum Mol Genet (1997) 1.56
Bee-hawking by the wasp, Vespa velutina, on the honeybees Apis cerana and A. mellifera. Naturwissenschaften (2007) 1.54
Presence of neurofilament protein in Alzheimer's neurofibrillary tangles (ANT). An immunofluorescent study. Acta Neuropathol (1979) 1.54
Demonstration of microglial cells in and around senile (neuritic) plaques in the Alzheimer brain. An immunohistochemical study using a novel monoclonal antibody. Acta Neuropathol (1989) 1.54
High-dynamic-range magnetometry with a single nuclear spin in diamond. Nat Nanotechnol (2011) 1.54
A census of copies of the first edition of Andreas Vesalius' De humani corporis fabrica (1543), with a note on the recently discovered variant issue. J Hist Med Allied Sci (1984) 1.52