Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A (2008) 2.87

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One (2007) 1.54

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis (2011) 1.07

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis (2011) 1.03

Fabry disease, enzyme replacement therapy and the significance of antibody responses. J Inherit Metab Dis (2011) 0.97

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. Biologics (2008) 0.93

Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci (2008) 0.90

Kidney glycosphingolipids are elevated early in diabetic nephropathy and mediate hypertrophy of mesangial cells. Am J Physiol Renal Physiol (2015) 0.89

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. JIMD Rep (2012) 0.84

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation. Oncotarget (2016) 0.82

Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis (2009) 0.80

Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. Eur J Clin Pharmacol (2008) 0.78

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. Clin Chim Acta (2015) 0.77

Letter concerning "Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha", by Tanaka et al. J Inherit Metab Dis (2010) 0.75

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients. J Am Soc Mass Spectrom (2016) 0.75

A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy. PLoS One (2011) 0.75

A rapid method of total lipid extraction and purification. Can J Biochem Physiol (1959) 173.74

Prevalence of lysosomal storage disorders. JAMA (1999) 9.06

Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94

Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA (2001) 5.54

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet (2001) 3.45

Creatinine assay by a reaction-kinetic principle. Clin Chim Acta (1972) 2.26

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet (2001) 2.13

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A (2000) 2.00

Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood (1999) 1.34

Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry. Mol Genet Metab (2001) 1.05

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet (1996) 1.00

Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol (1984) 0.96

Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom (2002) 0.93

Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett (2002) 0.91

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity. Mol Genet Metab (2002) 0.86

Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci (2004) 0.85

Fabry's disease: a multidisciplinary disorder. Postgrad Med J (1997) 0.81

Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry. Ann Clin Biochem (1991) 0.75

Plasma-paracetamol half-life and hepatic necrosis in patients with paracetamol overdosage. Lancet (1971) 4.40

Acute paracetamol poisoning. Br Med J (1970) 4.14

Successful treatment of severe paracetamol overdosage with cysteamine. Lancet (1974) 3.83

Hypersensitivity reactions to antibacterial drugs in infectious mononucleosis. Lancet (1967) 3.14

Impact of diabetes on long-term prognosis in patients with unstable angina and non-Q-wave myocardial infarction: results of the OASIS (Organization to Assess Strategies for Ischemic Syndromes) Registry. Circulation (2000) 3.12

Risk factors for HIV infection among young adult men in northern Thailand. JAMA (1993) 2.53

Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet (1994) 2.42

A potent inhibitor of Taq polymerase copurifies with human genomic DNA. Nucleic Acids Res (1988) 2.26

Anti-IL-4 treatment of Schistosoma mansoni-infected mice inhibits development of T cells and non-B, non-T cells expressing Th2 cytokines while decreasing egg-induced hepatic fibrosis. J Immunol (1994) 2.25

Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell (1988) 2.24

Deterioration in renal function after beta-blockade in patients with chronic renal failure and hypertension. Br Med J (1974) 2.10

Definition of dendritic cell subpopulations present in the spleen, Peyer's patches, lymph nodes, and skin of the mouse. Blood (1999) 2.09

Vitamin B-12 and folate deficiency presenting as leukaemia. BMJ (1990) 2.05

Dietary treatment of active Crohn's disease. BMJ (1997) 2.05

Interleukin-6-deficient mice develop hepatic inflammation and systemic insulin resistance. Diabetologia (2010) 1.89

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development (1996) 1.88

The pharmacokinetics of LY127935, a broad spectrum oxa-beta-lactam. J Antimicrob Chemother (1980) 1.85

Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM (2004) 1.83

Definition of Brucella A and M epitopes by monoclonal typing reagents and synthetic oligosaccharides. Infect Immun (1989) 1.80

Nitrazepam--a safe hypnotic. Br Med J (1969) 1.79

Cell kinetics in flat (avillous) mucosa of the human small intestine. Gut (1973) 1.76

Influence of cytochrome P-450 CYP2C9 polymorphisms on warfarin sensitivity and risk of over-anticoagulation in patients on long-term treatment. Blood (2000) 1.73

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM (1997) 1.73

Serum adiponectin and bone mineral density in women. J Clin Endocrinol Metab (2007) 1.63

Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. J Clin Invest (1999) 1.60

Evaluation of a quantitative competitive PCR assay for measuring herpes simplex virus DNA content in genital tract secretions. J Clin Microbiol (1997) 1.55

Distinct patterns of tissue-specific lipid accumulation during the induction of insulin resistance in mice by high-fat feeding. Diabetologia (2013) 1.48

Comorbidity of substance misuse and mental illness in community mental health and substance misuse services. Br J Psychiatry (2003) 1.48

Clinical value of ACE genotyping in diagnosis of sarcoidosis. Lancet (1997) 1.46

Nalorphine in opiate poisoning. Br Med J (1969) 1.46

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis (2004) 1.45

Strategic planning in medical education: enhancing the learning environment for students in clinical settings. Med Educ (2000) 1.42

Pharmacological effects of Lu AA21004: a novel multimodal compound for the treatment of major depressive disorder. J Pharmacol Exp Ther (2011) 1.42

Effect of intracoronary diltiazem on infarct size and regional myocardial function in the ischemic reperfused canine heart. J Am Coll Cardiol (1991) 1.42

Variation in the duration of mitosis in the crypts of Lieberkuhn of the rat; a cytokinetic study using vincristine. Cell Tissue Kinet (1972) 1.40

Pharmacology of cefotaxime and its desacetyl metabolite in renal and hepatic disease. Antimicrob Agents Chemother (1981) 1.40

Homocysteine, renal disease and cardiovascular disease in a remote Australian Aboriginal community. Intern Med J (2005) 1.38

Hereditary fructose intolerance. J Med Genet (1998) 1.37

The cell cycle time in the flat (avillous) mucosa of the human small intestine. Gut (1973) 1.37

Management of unconscious poisoned patients. Br Med J (1969) 1.36

Sympathomimetic drugs stimulate the output of secretory glycoproteins from human bronchi in vitro. Clin Sci (Lond) (1982) 1.36

Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood (2000) 1.33

Escitalopram, the S-(+)-enantiomer of citalopram, is a selective serotonin reuptake inhibitor with potent effects in animal models predictive of antidepressant and anxiolytic activities. Psychopharmacology (Berl) (2003) 1.32

Report of the Canadian Hypertension Society Consensus Conference: 2. Diagnosis of hypertension in adults. CMAJ (1993) 1.32

A comparison of two commonly used methods of weight estimation. Arch Dis Child (2003) 1.29

Predicting outcome of paracetamol poisoning by use 14C-aminopyrine breath test. Br Med J (1980) 1.28

The tau protein in human cerebrospinal fluid in Alzheimer's disease consists of proteolytically derived fragments. J Neurochem (1997) 1.26

Hypersensitivity to the penicillins. Lancet (1968) 1.25

The 5-HT3 antagonist tropisetron (ICS 205-930) is a potent and selective alpha7 nicotinic receptor partial agonist. Bioorg Med Chem Lett (2001) 1.25

Transglutaminase activity is increased in Alzheimer's disease brain. Brain Res (1997) 1.24

Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. Lancet (1978) 1.24

Severe metabolic acidosis early in paracetamol poisoning. Br Med J (Clin Res Ed) (1982) 1.23

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem (2001) 1.22

Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice. Development (2001) 1.19

DNA diagnosis of fatal fructose intolerance from archival tissue. Q J Med (1993) 1.19

Differential effects of acute and chronic social defeat stress on hypothalamic-pituitary-adrenal axis function and hippocampal serotonin release in mice. J Neuroendocrinol (2006) 1.19

Iron binding proteins and influx of iron across the duodenal brush border. Evidence for specific lactotransferrin receptors in the human intestine. Biochim Biophys Acta (1979) 1.18

Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. QJM (2000) 1.18

ABC of blood pressure reduction. Drug treatment. Br Med J (1980) 1.18

Diagnosis of cutaneous leishmaniasis by in vitro cultivation of saline aspirates in Schneider's Drosophila Medium. Am J Trop Med Hyg (1979) 1.18

Localization of cannabinoid CB1 receptors in the human anterior eye and retina. Invest Ophthalmol Vis Sci (1999) 1.16

Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol (1992) 1.15

Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem (1990) 1.15

The pharmacokinetics of cefotaxime and ceftriaxone in renal and hepatic dysfunction. Infection (1985) 1.14

Risk-factor changes in wives with husbands at high risk of coronary heart disease (CHD): the spin-off effect. J Behav Med (1987) 1.12

Osteoclastic tartrate-resistant acid phosphatase (Acp 5): its localization to dendritic cells and diverse murine tissues. J Histochem Cytochem (2000) 1.12

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis (2001) 1.11

Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium. Cancer Res (2000) 1.11

Permanent partial phenotypic correction and tolerance in a mouse model of hemophilia B by stem cell gene delivery of human factor IX. Gene Ther (2006) 1.10

Decreased high-molecular-weight adiponectin in gestational diabetes: implications for the pathophysiology of Type 2 diabetes. Diabet Med (2007) 1.09

Measurement of human fetal blood flow. Br Med J (1980) 1.09

A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res (1990) 1.09

Acute poisoning. A comparison of hypnotic drugs. Practitioner (1972) 1.09

Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. Eur J Biochem (1990) 1.07

Campylobacter pylori, duodenal ulcer disease, and gastrin. BMJ (1989) 1.06

Behavioral and sociodemographic risks for frequent visits to commercial sex workers among northern Thai men. AIDS (1993) 1.06

Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics (1991) 1.06

Cannabinoid CB1 receptors and ligands in vertebrate retina: localization and function of an endogenous signaling system. Proc Natl Acad Sci U S A (1999) 1.06

The laboratory investigation of paraproteinaemia. Ann Clin Biochem (1987) 1.06

Increased dopamine activity associated with stuttering. Neuroreport (1997) 1.06

Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol (1990) 1.06

Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells. J Histochem Cytochem (2001) 1.06

Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis (2001) 1.05

Increased levels of circulating insulin-related peptides in first-onset, antipsychotic naïve schizophrenia patients. Mol Psychiatry (2010) 1.05

Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry. Mol Genet Metab (2001) 1.05

Chemokine stromal cell-derived factor-1alpha modulates VLA-4 integrin-dependent adhesion to fibronectin and VCAM-1 on bone marrow hematopoietic progenitor cells. Exp Hematol (2001) 1.04

Hyperpyrexia during anaesthesia. Can Anaesth Soc J (1966) 1.04

Transcutaneous estimation of arterial PO2 and PCO2 in newborn infants with a single electrochemical sensor. Lancet (1980) 1.04

The effects of hepatic and renal damage on paracetamol metabolism and excretion following overdosage. A pharmacokinetic study. Br J Pharmacol (1973) 1.04

Tamoxifen-induced antitumorigenic/antiestrogenic action synergized by a selective aryl hydrocarbon receptor modulator. Cancer Res (2001) 1.04

Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Q J Med (1989) 1.04

The kinetics of iron uptake in vitro by human duodenal mucosa: studies in normal subjects. J Physiol (1979) 1.03

Dynamics of risk behavior for HIV infection among young Thai men. J Acquir Immune Defic Syndr Hum Retrovirol (1995) 1.02

Expression of CB2 cannabinoid receptor mRNA in adult rat retina. Vis Neurosci (2000) 1.02

Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis (2007) 1.01

Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus. Immunology (2001) 1.01

Genetic diagnosis of Gaucher's disease. Lancet (1992) 1.01

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet (1997) 1.00

An assessment of the unreliability of the history given by self-poisoned patients. Clin Toxicol (1980) 1.00