Published in J Pediatr on February 01, 2001
Galactose toxicity in animals. IUBMB Life (2009) 1.19
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet (2004) 1.18
Cerebrospinal fluid evidence of increased extra-mitochondrial glucose metabolism implicates mitochondrial dysfunction in multiple sclerosis disease progression. J Neurol Sci (2008) 0.95
Relationship of cerebrospinal fluid glucose metabolites to MRI deep white matter hyperintensities and treatment resistance in bipolar disorder patients. Bipolar Disord (2008) 0.87
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? J Inherit Metab Dis (2011) 0.86
Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J Inherit Metab Dis (2010) 0.83
Preparation of low galactose yogurt using cultures of Gal(+) Streptococcus thermophilus in combination with Lactobacillus delbrueckii ssp. bulgaricus. J Food Sci Technol (2014) 0.78
Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis (2017) 0.75
Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency. J Inherit Metab Dis (2016) 0.75
Brain MRI in a patient with classical galactosemia: acute event of unilateral hemispheric cerebral edema. Childs Nerv Syst (2017) 0.75
Influence of D-arabitol and ribitol on neuronal network activity. J Inherit Metab Dis (2005) 0.75
The sequence of the human genome. Science (2001) 101.55
The Biomolecular Interaction Network Database and related tools 2005 update. Nucleic Acids Res (2005) 12.94
Group B streptococcal neonatal and infant infections. J Pediatr (1973) 10.25
Rat galactose-1-phosphate uridyltransferase coding sequence, transcription start site and genomic organization. DNA Seq (1993) 9.01
MR signal abnormalities at 1.5 T in Alzheimer's dementia and normal aging. AJR Am J Roentgenol (1987) 8.48
Pulmonary expression of interleukin-13 causes inflammation, mucus hypersecretion, subepithelial fibrosis, physiologic abnormalities, and eotaxin production. J Clin Invest (1999) 8.38
Cereal genome evolution. Grasses, line up and form a circle. Curr Biol (1995) 8.33
Activation of cardiac gene expression by myocardin, a transcriptional cofactor for serum response factor. Cell (2001) 8.09
Levels of gamma-glutamyltranspeptidase in cultured skin fibroblasts from cystinotics and normals. Life Sci (1980) 7.31
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26
The Y-family of DNA polymerases. Mol Cell (2001) 6.49
Genetic diversity and disease control in rice. Nature (2000) 5.34
An internal control for routine diagnostic PCR: design, properties, and effect on clinical performance. J Clin Microbiol (1998) 4.58
Inducible targeting of IL-13 to the adult lung causes matrix metalloproteinase- and cathepsin-dependent emphysema. J Clin Invest (2000) 4.16
Hippocampal and entorhinal atrophy in mild cognitive impairment: prediction of Alzheimer disease. Neurology (2007) 3.97
Cutting edge: a role for B lymphocyte stimulator in systemic lupus erythematosus. J Immunol (2001) 3.87
Cardiac hypertrophy is not a required compensatory response to short-term pressure overload. Circulation (2000) 3.82
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nat Genet (2002) 3.67
Organ-tissue mass measurement allows modeling of REE and metabolically active tissue mass. Am J Physiol (1998) 3.65
Nonaccidental head injury in infants--the "shaken-baby syndrome". N Engl J Med (1998) 3.46
Is combined spinal-epidural analgesia associated with more rapid cervical dilation in nulliparous patients when compared with conventional epidural analgesia? Anesthesiology (1999) 3.45
Safety and immunogenicity trial in adult volunteers of a human papillomavirus 16 L1 virus-like particle vaccine. J Natl Cancer Inst (2001) 3.28
Regulation of imprinted X-chromosome inactivation in mice by Tsix. Development (2001) 3.12
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
jun-B inhibits and c-fos stimulates the transforming and trans-activating activities of c-jun. Cell (1989) 3.05
Longitudinal CSF and MRI biomarkers improve the diagnosis of mild cognitive impairment. Neurobiol Aging (2005) 3.00
p53: a transdominant regulator of transcription whose function is ablated by mutations occurring in human cancer. EMBO J (1992) 2.90
Pain management and chemical dependency. Evolving perspectives. JAMA (1997) 2.89
Tumoricidal activity of a novel anti-human DR5 monoclonal antibody without hepatocyte cytotoxicity. Nat Med (2001) 2.87
Phenobarbital compared with phenytoin for the treatment of neonatal seizures. N Engl J Med (1999) 2.84
HMGB1-induced autophagy promotes chemotherapy resistance in leukemia cells. Leukemia (2010) 2.83
Rho GTPase function in tumorigenesis. Biochim Biophys Acta (2009) 2.81
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet (2001) 2.75
Total-body skeletal muscle mass: development and cross-validation of anthropometric prediction models. Am J Clin Nutr (2000) 2.71
Diffusion tensor imaging of acute mild traumatic brain injury in adolescents. Neurology (2008) 2.67
Localization of a domain on the paramyxovirus attachment protein required for the promotion of cellular fusion by its homologous fusion protein spike. Virology (1995) 2.67
Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome. Cell (1995) 2.58
The retinoblastoma gene product protects E2F-1 from degradation by the ubiquitin-proteasome pathway. Genes Dev (1996) 2.58
Expression of a transfected human c-myc oncogene inhibits differentiation of a mouse erythroleukaemia cell line. Nature (1986) 2.57
Unique TATA-binding protein-containing complexes and cofactors involved in transcription by RNA polymerases II and III. EMBO J (1993) 2.56
Hormonal changes in the grains of rice subjected to water stress during grain filling. Plant Physiol (2001) 2.52
Autophagy and chemotherapy resistance: a promising therapeutic target for cancer treatment. Cell Death Dis (2013) 2.52
Abrogation of metastatic properties of tumour cells by de novo expression of H-2K antigens following H-2 gene transfection. Nature (1985) 2.48
Diabetes is related to cerebral infarction but not to AD pathology in older persons. Neurology (2006) 2.48
p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat Genet (1995) 2.47
Surveillance scanning of children with medulloblastoma. N Engl J Med (1994) 2.47
Protection against Fas-dependent Th1-mediated apoptosis by antigen receptor engagement in B cells. Nature (1995) 2.43
MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology (1992) 2.39
Ionic remodeling underlying action potential changes in a canine model of atrial fibrillation. Circ Res (1997) 2.38
Invasiveness and metastasis of NIH 3T3 cells induced by Met-hepatocyte growth factor/scatter factor autocrine stimulation. Proc Natl Acad Sci U S A (1994) 2.36
Fire and flood management of coastal swamp enabled first rice paddy cultivation in east China. Nature (2007) 2.36
Shedding of syndecan-1 and -4 ectodomains is regulated by multiple signaling pathways and mediated by a TIMP-3-sensitive metalloproteinase. J Cell Biol (2000) 2.33
Proximal sequence element-binding transcription factor (PTF) is a multisubunit complex required for transcription of both RNA polymerase II- and RNA polymerase III-dependent small nuclear RNA genes. Mol Cell Biol (1995) 2.33
Cloning, expression and chromosome locations of the human DNMT3 gene family. Gene (1999) 2.33
Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation. Genes Dev (1999) 2.31
Oxytocin is required for nursing but is not essential for parturition or reproductive behavior. Proc Natl Acad Sci U S A (1996) 2.31
Regional specialization in human nuclei: visualization of discrete sites of transcription by RNA polymerase III. EMBO J (1999) 2.28
Effects of angiotensin-converting enzyme inhibition on the development of the atrial fibrillation substrate in dogs with ventricular tachypacing-induced congestive heart failure. Circulation (2001) 2.27
Error-free and error-prone lesion bypass by human DNA polymerase kappa in vitro. Nucleic Acids Res (2000) 2.25
Activator-dependent transcription from chromatin in vitro involving targeted histone acetylation by p300. Mol Cell (2000) 2.25
Computed tomography of shearing injuries of the cerebral white matter. Radiology (1978) 2.23
Incidence of epidural catheter replacement in parturients: a retrospective chart review. Int J Obstet Anesth (1998) 2.22
Eukaryotic DNA polymerases: proposal for a revised nomenclature. J Biol Chem (2001) 2.15
Dual-energy X-ray absorptiometry body composition model: review of physical concepts. Am J Physiol (1996) 2.15
Specificity of DNA lesion bypass by the yeast DNA polymerase eta. J Biol Chem (2000) 2.12
Acquisition of sensitivity of stress-activated protein kinases to the p38 inhibitor, SB 203580, by alteration of one or more amino acids within the ATP binding pocket. J Biol Chem (1998) 2.12
Evolution of HIV-1 coreceptor usage through interactions with distinct CCR5 and CXCR4 domains. Proc Natl Acad Sci U S A (1997) 2.11
The human REV1 gene codes for a DNA template-dependent dCMP transferase. Nucleic Acids Res (1999) 2.10
Expression of chemokine receptors by subsets of neurons in the central nervous system. J Immunol (1997) 2.10
A genomic-systems biology map for cardiovascular function. Science (2001) 2.09
Urokinase receptors promote beta1 integrin function through interactions with integrin alpha3beta1. Mol Biol Cell (2001) 2.09
Intracranial hematomas: imaging by high-field MR. Radiology (1985) 2.08
Preferential incorporation of G opposite template T by the low-fidelity human DNA polymerase iota. Mol Cell Biol (2000) 2.08
Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex. Am J Physiol Renal Physiol (2001) 2.08
Error-prone lesion bypass by human DNA polymerase eta. Nucleic Acids Res (2000) 2.07
The spectrum of brain MR abnormalities in sickle-cell disease: a report from the Cooperative Study of Sickle Cell Disease. AJNR Am J Neuroradiol (1996) 2.05
Polypoid lesions of the gallbladder: diagnosis and indications for surgery. Br J Surg (1992) 2.04
Distribution of glutathione-cystine transhydrogenase activity in subcellular fractions of rat intestinal mucosa. Biochem J (1969) 2.02
Identity of a novel delayed rectifier current from human heart with a cloned K+ channel current. Circ Res (1993) 2.02
Physical evidence for distinct mechanisms of translational control by upstream open reading frames. EMBO J (2001) 2.02
Reducing premature death and renal failure in Australian aboriginals. A community-based cardiovascular and renal protective program. Med J Aust (2000) 2.01
Mutations in the Newcastle disease virus hemagglutinin-neuraminidase protein that interfere with its ability to interact with the homologous F protein in the promotion of fusion. Virology (1999) 2.01
Fusiform dilatations of the carotid artery following radical surgery of childhood craniopharyngiomas. J Neurosurg (1991) 2.01
Molecular characterization of the melanin-concentrating-hormone receptor. Nature (1999) 2.00
Mesenchymal stem cell as salvage treatment for refractory chronic GVHD. Bone Marrow Transplant (2010) 2.00
ST segment depression in lateral limb leads in inferior wall acute myocardial infarction. Implications regarding the culprit artery and the site of obstruction. Eur Heart J (1995) 1.99
Evidence for non-spliced SV40 RNA in undifferentiated murine teratocarcinoma stem cells. Nature (1979) 1.99
Transfer of a premature or other high-risk newborn infant to a referral hospital. Pediatr Clin North Am (1966) 1.94
Phosphorylation and agonist-specific intracellular trafficking of an epitope-tagged mu-opioid receptor expressed in HEK 293 cells. J Neurochem (1995) 1.93
Slow- and tight-binding inhibitors of the 85-kDa human phospholipase A2. Biochemistry (1993) 1.93
Echocardiographic destruction of albumin microbubbles directs gene delivery to the myocardium. Circulation (2000) 1.91
Increased AKT activity contributes to prostate cancer progression by dramatically accelerating prostate tumor growth and diminishing p27Kip1 expression. J Biol Chem (2000) 1.91
Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology (2002) 1.90
Glucagon-like peptide 1 has a physiological role in the control of postprandial glucose in humans: studies with the antagonist exendin 9-39. Diabetes (1999) 1.90
Field test of quantum key distribution in the Tokyo QKD Network. Opt Express (2011) 1.89
The fungal mitochondrial genome project: evolution of fungal mitochondrial genomes and their gene expression. Curr Genet (1997) 1.89
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88