Published in Mol Genet Metab on December 19, 2007
High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem (2013) 2.09
A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler). Clin Chem (2010) 1.65
CRIM-negative infantile Pompe disease: 42-month treatment outcome. J Inherit Metab Dis (2010) 1.51
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet J Rare Dis (2015) 1.43
Newborn screening for lysosomal storage diseases. Clin Chem (2014) 1.42
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis (2009) 0.94
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol (2013) 0.89
Molecular diagnosis of German patients with late-onset glycogen storage disease type II. J Inherit Metab Dis (2008) 0.89
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. J Inherit Metab Dis (2009) 0.83
Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases. Phys Med Rehabil Clin N Am (2012) 0.83
Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis (2011) 0.82
PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease. J Inherit Metab Dis (2010) 0.81
Glycogenosome accumulation in the arrector pili muscle in Pompe disease. Orphanet J Rare Dis (2014) 0.79
Pompe's Disease in Childhood: A Metabolic Myopathy. Med J Armed Forces India (2011) 0.77
Clinical Analysis of Algerian Patients with Pompe Disease. J Neurodegener Dis (2017) 0.75
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Rep (2016) 0.75
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. BMC Neurol (2015) 0.75
Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol (2013) 0.75
An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs. Case Rep Dent (2017) 0.75
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Mol Genet Metab Rep (2017) 0.75
Clinical management of hepatocellular carcinoma. Conclusions of the Barcelona-2000 EASL conference. European Association for the Study of the Liver. J Hepatol (2001) 19.07
Ancient DNA: do it right or not at all. Science (2000) 7.84
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
Cephamycins, a new family of beta-lactam antibiotics. I. Production by actinomycetes, including Streptomyces lactamdurans sp. n. Antimicrob Agents Chemother (1972) 5.23
Efficient allelic exchange and transposon mutagenesis in Mycobacterium tuberculosis. Proc Natl Acad Sci U S A (1997) 4.93
Thienamycin, a new beta-lactam antibiotic. I. Discovery, taxonomy, isolation and physical properties. J Antibiot (Tokyo) (1979) 4.82
Ferricytochrome c. I. General features of the horse and bonito proteins at 2.8 A resolution. J Biol Chem (1971) 4.75
Mutants of yeast defective in iso-1-cytochrome c. Genetics (1974) 4.73
Short cytoplasmic sequences serve as retention signals for transmembrane proteins in the endoplasmic reticulum. Cell (1989) 4.47
Allostery without conformational change. A plausible model. Eur Biophys J (1984) 3.89
Phosphonomycin, a new antibiotic produced by strains of streptomyces. Science (1969) 3.89
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med (2001) 3.60
Intracellular trafficking in Mycobacterium tuberculosis and Mycobacterium avium-infected macrophages. J Immunol (1994) 3.55
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet (1998) 3.54
The frequency of lysosomal storage diseases in The Netherlands. Hum Genet (1999) 3.54
Dynamics of Pleistocene population extinctions in Beringian brown bears. Science (2002) 3.53
A deletion map of cyc1 mutants and its correspondence to mutationally altered iso-1-cytochromes c of yeast. Genetics (1975) 3.48
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet (2000) 3.33
Potassium channel antibodies in two patients with reversible limbic encephalitis. Ann Neurol (2001) 3.06
Thermodynamic fluctuations in protein molecules. Proc Natl Acad Sci U S A (1976) 3.00
Social deprivation and prognostic benefits of cardiac surgery: observational study of 44 902 patients from five hospitals over 10 years. BMJ (2009) 2.95
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet (2001) 2.91
Systemic absorption of progesterone from Progest cream in postmenopausal women. Lancet (1998) 2.78
Guidelines for the diagnosis and management of osteoporosis in postmenopausal women and men from the age of 50 years in the UK. Maturitas (2009) 2.74
Mapping and gene conversion studies with the structural gene for iso-1-cytochrome C in yeast. Genetics (1975) 2.65
Clinical and outcome characteristics of children with adrenocortical tumors: a report from the International Pediatric Adrenocortical Tumor Registry. J Clin Oncol (2004) 2.63
Identification and mutational relocation of the AUG codon initiating translation of iso-1-cytochrome c in yeast. J Biol Chem (1971) 2.57
Assessing the work of medical audit advisory groups in promoting audit in general practice. Qual Health Care (1995) 2.50
Kinetics and affinity of reactions between an antigen-specific T cell receptor and peptide-MHC complexes. Immunity (1994) 2.39
Sanfilippo syndrome: a mini-review. J Inherit Metab Dis (2008) 2.35
Population genetics of ice age brown bears. Proc Natl Acad Sci U S A (2000) 2.33
Energy uptake in the first step of visual excitation. Nature (1979) 2.18
Systematic review: glucocorticosteroids for alcoholic hepatitis--a Cochrane Hepato-Biliary Group systematic review with meta-analyses and trial sequential analyses of randomized clinical trials. Aliment Pharmacol Ther (2008) 2.16
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16
Results of balloon pulmonary valvuloplasty as a palliative procedure in tetralogy of Fallot. J Am Coll Cardiol (1991) 2.10
High-affinity reactions between antigen-specific T-cell receptors and peptides associated with allogeneic and syngeneic major histocompatibility complex class I proteins. Proc Natl Acad Sci U S A (1994) 2.09
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics (1996) 2.08
Cardiac arrest during intramedullary nailing for femoral metastases. J Bone Joint Surg Br (1993) 2.07
Acute pain after thoracic surgery predicts long-term post-thoracotomy pain. Clin J Pain (1996) 2.05
Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J (2005) 2.04
Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat? Neurology (2011) 2.04
Neuroaxial blockade and psoriasis. Int J Obstet Anesth (2007) 2.03
RCPE UK consensus statement on diabetes. J R Coll Physicians Edinb (2010) 2.03
Whole-brain irradiation and decline in intelligence: the influence of dose and age on IQ score. J Clin Oncol (1992) 2.03
Less collagen production in smokers. Surgery (1998) 2.00
Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology (1997) 1.99
Organization and expression of non-Alu family interspersed repetitive DNA sequences in the mouse genome. J Mol Biol (1984) 1.96
Transfer of a foreign gene into the brain using adenovirus vectors. Nat Genet (1993) 1.95
Prognostic value of Child-Turcotte criteria in medically treated cirrhosis. Hepatology (1984) 1.95
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr (1998) 1.91
Cell wall core galactofuran synthesis is essential for growth of mycobacteria. J Bacteriol (2001) 1.90
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol (2009) 1.90
Cellular response to modulated radiation fields. Phys Med Biol (2007) 1.88
Tiacumicins, a novel complex of 18-membered macrolide antibiotics. I. Taxonomy, fermentation and antibacterial activity. J Antibiot (Tokyo) (1987) 1.87
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
Efficacy of D0870 compared with those of itraconazole and amphotericin B in two murine models of invasive aspergillosis. Antimicrob Agents Chemother (1995) 1.86
Beneficial effect of azathioprine and prediction of prognosis in primary biliary cirrhosis. Final results of an international trial. Gastroenterology (1985) 1.86
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet (2004) 1.79
The costs and benefits of asking patients for their opinions about general practice. Fam Pract (1996) 1.73
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 1.72
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) J Clin Invest (2000) 1.72
A redrawn Vandenberg and Kuse mental rotations test: different versions and factors that affect performance. Brain Cogn (1995) 1.71
Ischemic and pharmacological preconditioning in Girardi cells and C2C12 myotubes induce mitochondrial uncoupling. Circ Res (2001) 1.71
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science (1997) 1.70
CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70
Roaccutane treatment guidelines: results of an international survey. Dermatology (1997) 1.70
Ferroelastic switching for nanoscale non-volatile magnetoelectric devices. Nat Mater (2010) 1.69
Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features. Neurology (1987) 1.69
Demonstration of the UAA ochre codon in bakers yeast by amino-acid replacements in iso-1-cytochrome c. J Mol Biol (1972) 1.66
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66
B cells are exquisitely sensitive to central tolerance and receptor editing induced by ultralow affinity, membrane-bound antigen. J Exp Med (1996) 1.66
Successful management of esophageal strictures without resection or replacement. J Pediatr Surg (1989) 1.65
Molecular determinants of acute single-cell lysis by human immunodeficiency virus type 1. J Virol (1996) 1.64
Determinants of chemotactic signal amplification in Escherichia coli. J Mol Biol (2001) 1.64
Clinical phenotype associated with terminal 2q37 deletion. Clin Genet (1995) 1.63
Arithmetic skills in patients with unilateral cerebral lesions. Cortex (1986) 1.63
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet (1999) 1.62
Age is not an impediment to effective use of patient-controlled analgesia by surgical patients. Anesthesiology (2000) 1.62
Effect of antihypertensive treatment on small arteries of patients with previously untreated essential hypertension. Hypertension (1995) 1.62
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol (1990) 1.62
Gastrointestinal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord (1999) 1.60
Tyrosine substitutions resulting from suppression of amber mutants of iso-1-cytochrome c in yeast. J Mol Biol (1973) 1.59
Tau, ubiquitin, and alpha B-crystallin immunohistochemistry define the principal causes of degenerative frontotemporal dementia. Arch Neurol (1995) 1.59
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet (1989) 1.58
Occurrence of hepatocellular carcinoma and decompensation in western European patients with cirrhosis type B. The EUROHEP Study Group on Hepatitis B Virus and Cirrhosis. Hepatology (1995) 1.57
Updating prognosis and therapeutic effect evaluation in cirrhosis with Cox's multiple regression model for time-dependent variables. Scand J Gastroenterol (1986) 1.57
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis (2001) 1.56
Congenital testicular maldescent: significance of the complete hernial sac. Br J Urol (1995) 1.56
A family IIb xylan-binding domain has a similar secondary structure to a homologous family IIa cellulose-binding domain but different ligand specificity. Structure (1999) 1.52
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency. J Pediatr (1993) 1.52
Recombinant TGF-beta 1 is synthesized as a two-component latent complex that shares some structural features with the native platelet latent TGF-beta 1 complex. Growth Factors (1989) 1.51
The evolutionary history of the extinct ratite moa and New Zealand Neogene paleogeography. Proc Natl Acad Sci U S A (2009) 1.50
Pediatric ambulance utilization in a large American city: a systems analysis approach. Pediatr Emerg Care (1998) 1.50
Ethyl-substituted erythromycin derivatives produced by directed metabolic engineering. Proc Natl Acad Sci U S A (1998) 1.50