Published in Lancet on November 29, 2011
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr (2013) 1.51
Newborn screening for lysosomal storage diseases. Clin Chem (2014) 1.42
Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI. Clin Chem (2015) 1.15
Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci (2014) 1.06
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. Clin Chim Acta (2012) 1.05
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. J Chromatogr B Analyt Technol Biomed Life Sci (2012) 1.02
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. Clin Chim Acta (2013) 1.01
Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry. Anal Chem (2014) 0.99
Newborn Screening for Lysosomal Storage Disorders. J Pediatr Genet (2016) 0.95
Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT. JIMD Rep (2012) 0.88
Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann Lab Med (2012) 0.84
Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther (2013) 0.83
Role of endosomes and lysosomes in human disease. Cold Spring Harb Perspect Biol (2014) 0.83
Neonatal screening for lysosomal storage disorders. Lancet (2011) 0.81
Pompe disease: literature review and case series. Neurol Clin (2014) 0.81
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Rep (2014) 0.80
Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment. Heart Fail Rev (2015) 0.80
Recent advances in gene therapy for lysosomal storage disorders. Appl Clin Genet (2015) 0.79
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry Fibroblasts. JIMD Rep (2015) 0.79
Newborn screening for lysosomal storage disorders and other neuronopathic conditions. Dev Disabil Res Rev (2013) 0.79
Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry. Mol Genet Metab Rep (2016) 0.78
A single lung transplant in a patient with fabry disease: causality or far-fetched? A case report. Case Rep Transplant (2013) 0.78
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet J Rare Dis (2016) 0.77
Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases. N Am J Med Sci (Boston) (2016) 0.75
Clinical neurogenetics: neuropathic lysosomal storage disorders. Neurol Clin (2013) 0.75
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz. Mol Genet Metab Rep (2016) 0.75
Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis (2015) 0.75
Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease. Lupus (2013) 0.75
Newborn screening for pompe disease? a qualitative study exploring professional views. BMC Pediatr (2014) 0.75
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease. Mol Genet Metab Rep (2014) 0.75
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis (2017) 0.75
Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population. Eur J Pediatr (2013) 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
Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry. Clinics (Sao Paulo) (2013) 0.75
Lysosomal diseases: diagnostic update. J Inherit Metab Dis (2014) 0.75
Fabry disease in children: a federal screening programme in Russia. Eur J Pediatr (2017) 0.75
Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles. Mol Genet Metab Rep (2017) 0.75
Successful newborn screening for Gaucher disease using fluorometric assay in China. J Hum Genet (2017) 0.75
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Vitamin D3 down-regulates monocyte TLR expression and triggers hyporesponsiveness to pathogen-associated molecular patterns. Eur J Immunol (2006) 2.51
Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing. Clin Cancer Res (2013) 2.04
Constant darkness induces IL-6-dependent depression-like behavior through the NF-κB signaling pathway. J Neurosci (2011) 1.96
Must screening examinations for retinopathy of prematurity necessarily be painful? Retina (2009) 1.67
Immaturity of infection control in preterm and term newborns is associated with impaired toll-like receptor signaling. J Infect Dis (2006) 1.66
Renal failure, comorbidity and mortality in preterm infants. Wien Klin Wochenschr (2008) 1.54
Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Genet Med (2006) 1.44
Commentary on the history and quantitative nature of filter paper used in blood collection devices. Bioanalysis (2012) 1.43
Value and limitations of immunohistochemistry and gene sequencing for detection of the IDH1-R132H mutation in diffuse glioma biopsy specimens. J Neuropathol Exp Neurol (2011) 1.42
Primary follicular lymphoma of the duodenum is a distinct mucosal/submucosal variant of follicular lymphoma: a retrospective study of 63 cases. J Clin Oncol (2011) 1.41
hTERT alone immortalizes epithelial cells of renal proximal tubules without changing their functional characteristics. Am J Physiol Renal Physiol (2008) 1.40
Association between prenatal treatment and clinical manifestations of congenital toxoplasmosis in infancy: a cohort study in 13 European centres. Acta Paediatr (2005) 1.39
MALT lymphoma with t(14;18)(q32;q21)/IGH-MALT1 is characterized by strong cytoplasmic MALT1 and BCL10 expression. J Pathol (2005) 1.32
Quantitative PCR method for sensitive detection of ruminant fecal pollution in freshwater and evaluation of this method in alpine karstic regions. Appl Environ Microbiol (2006) 1.31
Antibiotic treatment is not effective in patients infected with Helicobacter pylori suffering from extragastric MALT lymphoma. J Clin Oncol (2006) 1.30
Simplified newborn screening protocol for lysosomal storage disorders. Clin Chem (2011) 1.29
FOXP1 abnormalities in lymphoma: translocation breakpoint mapping reveals insights into deregulated transcriptional control. Mod Pathol (2008) 1.26
Mucosa-associated lymphoid tissue lymphoma: novel translocations including rearrangements of ODZ2, JMJD2C, and CNN3. Clin Cancer Res (2008) 1.25
Does MALT lymphoma of the lung require immediate treatment? An analysis of 11 untreated cases with long-term follow-up. Anticancer Res (2007) 1.21
Monocyte toll-like receptor 4 expression and LPS-induced cytokine production increase during gestational aging. Pediatr Res (2005) 1.21
High relapse rate in patients with MALT lymphoma warrants lifelong follow-up. Clin Cancer Res (2005) 1.20
Quantification of excess risk for diabetes for those born in times of hunger, in an entire population of a nation, across a century. Proc Natl Acad Sci U S A (2013) 1.19
Expression of HER2 and the coamplified genes GRB7 and MLN64 in human breast cancer: quantitative real-time reverse transcription-PCR as a diagnostic alternative to immunohistochemistry and fluorescence in situ hybridization. Clin Cancer Res (2005) 1.18
The fusion kinase ITK-SYK mimics a T cell receptor signal and drives oncogenesis in conditional mouse models of peripheral T cell lymphoma. J Exp Med (2010) 1.18
Assessment of disease dissemination in gastric compared with extragastric mucosa-associated lymphoid tissue lymphoma using extensive staging: a single-center experience. J Clin Oncol (2006) 1.17
Renal cell carcinoma associated with transcription factor E3 expression and Xp11.2 translocation: incidence, characteristics, and prognosis. Am J Clin Pathol (2012) 1.16
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Perinatal lead and mercury exposure in Austria. Sci Total Environ (2010) 1.15
Peripheral T-cell lymphomas with a follicular growth pattern are derived from follicular helper T cells (TFH) and may show overlapping features with angioimmunoblastic T-cell lymphomas. Am J Surg Pathol (2009) 1.09
Predictors of spontaneous closure of isolated secundum atrial septal defect in children: a longitudinal study. Pediatrics (2006) 1.09
Monoclonal immunoglobulin production is a frequent event in patients with mucosa-associated lymphoid tissue lymphoma. Clin Cancer Res (2004) 1.09
Amplitude-integrated EEG pattern predicts further outcome in preterm infants. Pediatr Res (2011) 1.06
The bacterial load of Ureaplasma parvum in amniotic fluid is correlated with an increased intrauterine inflammatory response. Diagn Microbiol Infect Dis (2010) 1.05
Extranodal marginal zone B-cell lymphomas of the ocular adnexa: multiparameter analysis of 34 cases including interphase molecular cytogenetics and PCR for Chlamydia psittaci. Am J Surg Pathol (2007) 1.04
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. J Chromatogr B Analyt Technol Biomed Life Sci (2012) 1.02
Reference values for amplitude-integrated electroencephalographic activity in preterm infants younger than 30 weeks' gestational age. Pediatrics (2004) 1.02
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. Blood (2013) 1.02
Clinical chemistry and dried blood spots: increasing laboratory utilization by improved understanding of quantitative challenges. Bioanalysis (2014) 1.02
Myeloid sarcoma with multiple lesions of the central nervous system in a patient without leukemia. Case report. J Neurosurg (2006) 1.01
Expression of podoplanin is a rare event in sporadic gastrointestinal stromal tumors and does not influence prognosis. Future Oncol (2012) 1.01
MAPKAP kinase 2 overexpression influences prognosis in gastrointestinal stromal tumors and associates with copy number variations on chromosome 1 and expression of p38 MAP kinase and ETV1. Clin Cancer Res (2012) 1.00
Evaluation of the Roche Elecsys Toxo IgG and IgM electrochemiluminescence immunoassay for the detection of gestational Toxoplasma infection. Diagn Microbiol Infect Dis (2010) 0.99
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A (2011) 0.98
Marginal zone lymphomas involving meningeal dura: possible link to IgG4-related diseases. Mod Pathol (2010) 0.96
Molecular detection of late-onset neonatal sepsis in premature infants using small blood volumes: proof-of-concept. Neonatology (2013) 0.96
The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals. Wien Klin Wochenschr (2010) 0.96
MicroRNA-146: tiny player in neonatal innate immunity? Neonatology (2010) 0.95
Background patterns and sleep-wake cycles on amplitude-integrated electroencephalography in preterms younger than 30 weeks gestational age with peri-/intraventricular haemorrhage. Acta Paediatr (2007) 0.95
The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots. Rapid Commun Mass Spectrom (2010) 0.95
Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS/MS for X-linked adrenoleukodystrophy newborn screening. Clin Chim Acta (2012) 0.94
The cooperating mutation or "second hit" determines the immunologic visibility toward MYC-induced murine lymphomas. Blood (2011) 0.94
Subtelomeric rearrangements as neutral genomic polymorphisms. Am J Med Genet A (2005) 0.92
Heparinase-modified thrombelastography in term and preterm neonates. Anesth Analg (2004) 0.92
Effects of a combined therapy of erythropoietin, iron, folate, and vitamin B12 on the transfusion requirements of extremely low birth weight infants. Pediatrics (2006) 0.92
Embryonal tumor with abundant neuropil and true rosettes (ETANTR) with loss of morphological but retained genetic key features during progression. Acta Neuropathol (2011) 0.92
Intrauterine infection with Ureaplasma species is associated with adverse neuromotor outcome at 1 and 2 years adjusted age in preterm infants. J Perinat Med (2009) 0.92
Activity of rituximab plus cyclophosphamide, doxorubicin/mitoxantrone, vincristine and prednisone in patients with relapsed MALT lymphoma. Oncology (2007) 0.91
Telomerase immortalized human amnion- and adipose-derived mesenchymal stem cells: maintenance of differentiation and immunomodulatory characteristics. Tissue Eng Part A (2009) 0.91
A randomized, controlled trial of the effects of adding vitamin B12 and folate to erythropoietin for the treatment of anemia of prematurity. Pediatrics (2006) 0.91
In utero exposure to Ureaplasma spp. is associated with increased rate of bronchopulmonary dysplasia and intraventricular hemorrhage in preterm infants. J Perinat Med (2011) 0.91
Quantitative real-time polymerase chain reaction for the accurate detection of Toxoplasma gondii in amniotic fluid. Diagn Microbiol Infect Dis (2008) 0.90
Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its impact on quantitative measurement of amino acids. Clin Chim Acta (2011) 0.90
Phase II study of oxaliplatin for treatment of patients with mucosa-associated lymphoid tissue lymphoma. J Clin Oncol (2005) 0.90
Preterm birth and disruptive cerebellar development: assessment of perinatal risk factors. Eur J Paediatr Neurol (2008) 0.90
Concomitant occurrence of MALT lymphoma and multiple myeloma. Ann Hematol (2004) 0.90
Marginal zone lymphomas in children and the young adult population; characterization of genetic aberrations by FISH and RT-PCR. Mod Pathol (2010) 0.90
Perspectives on immunomodulation early in life. Pediatr Allergy Immunol (2012) 0.89
Genetic aberrations in primary cutaneous large B-cell lymphoma: a fluorescence in situ hybridization study of 25 cases. Am J Surg Pathol (2005) 0.89
European challenges: cross-border care for children. J Pediatr (2012) 0.89
Small volume enemas do not accelerate meconium evacuation in very low birth weight infants. J Pediatr Gastroenterol Nutr (2007) 0.89
Risk factor profile and pregnancy outcome in women with type 1 and type 2 diabetes mellitus. J Womens Health (Larchmt) (2011) 0.89
Sphingosine-kinase 1 and 2 contribute to oral sensitization and effector phase in a mouse model of food allergy. Immunol Lett (2011) 0.89
Vaccination against tick-borne encephalitis virus tests specific IgG production ability in patients under immunoglobulin substitution therapy. Vaccine (2010) 0.88
Performance properties of filter paper devices for whole blood collection. Bioanalysis (2010) 0.88
Amplification but not translocation of anaplastic lymphoma kinase is a frequent event in oesophageal cancer. Eur J Cancer (2013) 0.88
Gel-based mass spectrometric analysis of a strongly hydrophobic GABAA-receptor subunit containing four transmembrane domains. Nat Protoc (2009) 0.88
Is the use of early nasal CPAP associated with lower rates of chronic lung disease and retinopathy of prematurity? Nine years of experience with the Vermont Oxford Neonatal Network. J Perinat Med (2005) 0.88
Induction of IgG antibodies against the GD2 carbohydrate tumor antigen by vaccination with peptide mimotopes. Eur J Immunol (2006) 0.87
Immunoregulation by Toxoplasma gondii infection prevents allergic immune responses in mice. Int J Parasitol (2008) 0.87
Nitration of the egg-allergen ovalbumin enhances protein allergenicity but reduces the risk for oral sensitization in a murine model of food allergy. PLoS One (2010) 0.87
Monocyte phagocytosis as a reliable parameter for predicting early-onset sepsis in very low birthweight infants. Early Hum Dev (2002) 0.86
Scopolamine administration modulates muscarinic, nicotinic and NMDA receptor systems. PLoS One (2012) 0.86
The lymphoma-associated fusion tyrosine kinase ITK-SYK requires pleckstrin homology domain-mediated membrane localization for activation and cellular transformation. J Biol Chem (2009) 0.86
Self-concept in male and female adolescents with congenital heart disease. Clin Pediatr (Phila) (2002) 0.86