Published in Clin Genet on December 10, 2009
Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86
Niemann-Pick disease type C symptomatology: an expert-based clinical description. Orphanet J Rare Dis (2013) 1.38
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17
Imaging of Childhood Interstitial Lung Disease. Pediatr Allergy Immunol Pulmonol (2010) 1.11
Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1⁻/⁻ mice. Mol Genet Metab (2011) 0.96
Long-term follow-up and treatment of congenital alveolar proteinosis. BMC Pediatr (2011) 0.94
Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease. PLoS One (2011) 0.86
Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung. Am J Physiol Lung Cell Mol Physiol (2012) 0.85
Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease. PLoS One (2013) 0.85
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. JIMD Rep (2015) 0.84
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening. EBioMedicine (2015) 0.84
Molecular pathways for intracellular cholesterol accumulation: common pathogenic mechanisms in Niemann-Pick disease Type C and cystic fibrosis. Arch Biochem Biophys (2011) 0.83
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. Case Rep Neurol Med (2014) 0.79
Characterization of Niemann-Pick Type C2 protein expression in multiple cancers using a novel NPC2 monoclonal antibody. PLoS One (2013) 0.79
Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann-Pick type C disease. Biochim Biophys Acta (2013) 0.79
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC Med Genet (2017) 0.77
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One (2014) 0.76
Pulmonary alveolar proteinosis in a cat. BMC Vet Res (2015) 0.76
Pulmonary alveolar proteinosis and Niemann Pick disease type B: An unexpected combination. Respir Med Case Rep (2016) 0.75
Metabolic Functions of the Lung, Disorders and Associated Pathologies. J Clin Med Res (2016) 0.75
The cholesterol-binding protein NPC2 restrains recruitment of stromal macrophage-lineage cells to early-stage lung tumours. EMBO Mol Med (2015) 0.75
Functional rafts in cell membranes. Nature (1997) 38.89
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med (2009) 7.53
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet (1999) 6.92
A rare genotype of Cryptococcus gattii caused the cryptococcosis outbreak on Vancouver Island (British Columbia, Canada). Proc Natl Acad Sci U S A (2004) 6.21
How cells handle cholesterol. Science (2000) 5.56
A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol Cell (2000) 5.31
Hybrid genotypes in the pathogenic yeast Cryptococcus neoformans. Microbiology (2001) 3.27
Regulation of scavenger receptor CD163 expression in human monocytes and macrophages by pro- and antiinflammatory stimuli. J Leukoc Biol (2000) 3.24
An iron-regulated ferric reductase associated with the absorption of dietary iron. Science (2001) 2.90
ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. Proc Natl Acad Sci U S A (2000) 2.77
C(-260)-->T polymorphism in the promoter of the CD14 monocyte receptor gene as a risk factor for myocardial infarction. Circulation (1999) 2.65
Sequence-based identification of Aspergillus, fusarium, and mucorales species in the clinical mycology laboratory: where are we and where should we go from here? J Clin Microbiol (2008) 2.57
Alternatives to HIV-1 RNA concentration and CD4 count to predict mortality in HIV-1-infected children in resource-poor settings. Lancet (2003) 2.38
Caveolin-1 and -2 in the exocytic pathway of MDCK cells. J Cell Biol (1998) 2.36
The Lateral suppressor (Ls) gene of tomato encodes a new member of the VHIID protein family. Proc Natl Acad Sci U S A (1999) 2.34
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. Nat Genet (2000) 2.26
Molecular evidence that the asexual industrial fungus Trichoderma reesei is a clonal derivative of the ascomycete Hypocrea jecorina. Proc Natl Acad Sci U S A (1996) 2.21
Clinical evaluation of a Mycobacterium tuberculosis PCR assay. J Clin Microbiol (1995) 2.19
Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Commun (1999) 2.08
Gene variants of the bactericidal/permeability increasing protein and lipopolysaccharide binding protein in sepsis patients: gender-specific genetic predisposition to sepsis. Crit Care Med (2001) 2.06
Well-established nucleon resonances revisited by double-polarization measurements. Phys Rev Lett (2012) 1.99
Cleavage of yeast and bacteriophage T7 genomes at a single site using the rare cutter endonuclease I-Sce I. Nucleic Acids Res (1991) 1.96
A caveolin dominant negative mutant associates with lipid bodies and induces intracellular cholesterol imbalance. J Cell Biol (2001) 1.92
Gene expression profiling of the nervous system in murine experimental autoimmune encephalomyelitis. Brain (2001) 1.91
C-reactive protein in the arterial intima: role of C-reactive protein receptor-dependent monocyte recruitment in atherogenesis. Arterioscler Thromb Vasc Biol (2000) 1.88
Quantitative measurement of different ceramide species from crude cellular extracts by electrospray ionization tandem mass spectrometry (ESI-MS/MS). J Lipid Res (1999) 1.84
THE ADVISABILITY OF TOTALLY EXCISING BOTH PECTORAL MUSCLES IN THE RADICAL OPERATION FOR CANCER OF THE BREAST. Ann Surg (1918) 1.84
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
Comparative sequence analysis reveals extensive microcolinearity in the lateral suppressor regions of the tomato, Arabidopsis, and Capsella genomes. Plant Cell (2001) 1.79
A new semiautomatic method for quantitative static and dynamic bone histology. Calcif Tissue Int (1982) 1.78
Consensus protocol for the flow cytometric immunophenotyping of hematopoietic malignancies. Working Group on Flow Cytometry and Image Analysis. Leukemia (1996) 1.76
Genome variation in Cryptococcus gattii, an emerging pathogen of immunocompetent hosts. MBio (2011) 1.76
The skin of domestic mammals as a model for the human skin, with special reference to the domestic pig. Curr Probl Dermatol (1978) 1.74
Lipopolysaccharide and ceramide docking to CD14 provokes ligand-specific receptor clustering in rafts. Eur J Immunol (2001) 1.68
Dissecting the role of the golgi complex and lipid rafts in biosynthetic transport of cholesterol to the cell surface. Proc Natl Acad Sci U S A (2000) 1.67
Identification of clinical strains of Candida albicans by DNA fingerprinting with the polymerase chain reaction. Mycoses (1994) 1.67
Basolateral protein transport in streptolysin O-permeabilized MDCK cells. J Cell Biol (1994) 1.64
Concordance of clinical and environmental isolates of Cryptococcus neoformans var. gattii by random amplification of polymorphic DNA analysis and PCR fingerprinting. J Clin Microbiol (1996) 1.63
TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome. Neurology (2008) 1.63
Cytofluorometric methods for assessing absolute numbers of cell subsets in blood. European Working Group on Clinical Cell Analysis. Cytometry (2000) 1.63
Lipopolysaccharide-binding protein is required to combat a murine gram-negative bacterial infection. Nature (1997) 1.60
Determinations of levels of human immunodeficiency virus type 1 RNA in plasma: reassessment of parameters affecting assay outcome. TUBE Meeting Workshop Attendees. Technology Utilization for HIV-1 Blood Evaluation and Standardization in Pediatrics. J Clin Microbiol (1998) 1.58
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet (1995) 1.55
Rapid identification of Candida species by DNA fingerprinting with PCR. J Clin Microbiol (1996) 1.52
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis (2003) 1.52
Epidemiology: surveillance of fungal infections. Med Mycol (2000) 1.52
The +1059G/C polymorphism in the C-reactive protein (CRP) gene is associated with involvement of the terminal ileum and decreased serum CRP levels in patients with Crohn's disease. Aliment Pharmacol Ther (2006) 1.51
[On the usability of the crystal-violet test in the differentiation of Staphylococcus aureus strains]. Z Med Mikrobiol Immunol (1967) 1.48
Monitoring the effectiveness of anticoagulative therapy in left atrial spontaneous echo contrast by cerebral microemboli detection. Stroke (1999) 1.47
Quantification of high-density-lipoprotein cholesterol by precipitation with phosphotungstic acid/MgCl2. Clin Chem (1983) 1.45
Clusterin (complement lysis inhibitor) forms a high density lipoprotein complex with apolipoprotein A-I in human plasma. J Biol Chem (1991) 1.44
Current concepts in the diagnosis and management of metabolic complications of HIV infection and its therapy. Clin Infect Dis (2006) 1.42
p21/waf1/cip1 in gastric cancer: associations with histopathological subtypes, lymphonodal metastasis, prognosis and p53 status. Scand J Gastroenterol (2001) 1.42
Distinct muscle imaging patterns in myofibrillar myopathies. Neurology (2008) 1.41
Role of cholesterol in developing T-tubules: analogous mechanisms for T-tubule and caveolae biogenesis. Traffic (2000) 1.41
Age is a risk factor for chemotherapy-induced hepatopathy with vincristine, dactinomycin, and cyclophosphamide. J Clin Oncol (2004) 1.41
The OSBP-related protein family in humans. J Lipid Res (2001) 1.40
REGIONAL ANAESTHESIA IN EXTRAPLEURAL THORACOPLASTY AND SOME INTRATHORACIC OPERATIONS. Ann Surg (1917) 1.39
Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics (2003) 1.39
Increased rate of renal transplant failure in patients with the G20210A mutation of the prothrombin gene. Am J Kidney Dis (2001) 1.38
Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages. Circ Res (2005) 1.37
Hyperventilation induces release of cytokines from perfused mouse lung. Am J Respir Crit Care Med (1998) 1.36
Quantitative bone histology in 84 normal American subjects. Micromorphometric analysis and evaluation of variance in iliac bone. Calcif Tissue Int (1982) 1.36
Rapid identification and differentiation of yeasts by DNA and PCR fingerprinting. J Basic Microbiol (1993) 1.34
Species-specific detection of Legionella using polymerase chain reaction and reverse dot-blotting. FEMS Microbiol Lett (1996) 1.33
Cytokine removal and cardiovascular hemodynamics in septic patients with continuous venovenous hemofiltration. Intensive Care Med (1997) 1.32
SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter. Nat Neurosci (1999) 1.32
Excretion of a protease by Serratia marcescens. Arch Microbiol (1980) 1.32
Peripheral blood mononuclear phagocyte subpopulations as cellular markers in hypercholesterolemia. Arterioscler Thromb Vasc Biol (1996) 1.30
Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease. Gut (2005) 1.30
Minimal length requirement of the single-stranded tails for ligation-independent cloning (LIC) of PCR products. PCR Methods Appl (1994) 1.29
Hypoxia, a novel inducer of acute phase gene expression in a human hepatoma cell line. J Biol Chem (1995) 1.29
Molecular mycology: DNA probes and applications of PCR technology. J Med Vet Mycol (1994) 1.29
Isolation and characterization of a 14.5-kDa trichloroacetic-acid-soluble translational inhibitor protein from human monocytes that is upregulated upon cellular differentiation. Eur J Biochem (1996) 1.28
Candidaemia with uncommon Candida species: predisposing factors, outcome, antifungal susceptibility, and implications for management. Clin Microbiol Infect (2009) 1.28
Flow cytometric quantitation of immunofluorescence intensity: problems and perspectives. European Working Group on Clinical Cell Analysis. Cytometry (1998) 1.28
Cell-bound and secreted proteases of Serratia marcescens. J Bacteriol (1985) 1.28
Hsp70 plasma membrane expression on primary tumor biopsy material and bone marrow of leukemic patients. Cell Stress Chaperones (2000) 1.28
Molecular cloning and characterization of a novel putative carboxylesterase, present in human intestine and liver. Biochem Biophys Res Commun (1997) 1.27
Telemicroscopy by the Internet revisited. J Pathol (2002) 1.27
The beta-amyloid domain is essential for axonal sorting of amyloid precursor protein. EMBO J (1996) 1.26
Intracellular and secreted Alzheimer beta-amyloid species are generated by distinct mechanisms in cultured hippocampal neurons. Proc Natl Acad Sci U S A (1997) 1.26
Species and genotypic diversities and similarities of pathogenic yeasts colonizing women. J Clin Microbiol (1999) 1.26
Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut (2005) 1.24
Fabry disease: a review of current management strategies. QJM (2010) 1.24
ON BRONCHIECTASIS. Ann Surg (1914) 1.24
Population-based surveillance for scedosporiosis in Australia: epidemiology, disease manifestations and emergence of Scedosporium aurantiacum infection. Clin Microbiol Infect (2009) 1.24
Nucleotide sequence, chromosomal assignment and mRNA expression of mouse hypoxia-inducible factor-1 alpha. Biochem Biophys Res Commun (1996) 1.23
Production and characterization of monoclonal antibodies specific for Mycobacterium bovis. J Gen Microbiol (1988) 1.22
Intracellular routing of human amyloid protein precursor: axonal delivery followed by transport to the dendrites. J Neurosci Res (1995) 1.22
Social competence and behavioral problems of pediatric survivors of burns. J Burn Care Rehabil (1993) 1.20
[On the usefulness of the coagulase test with various types of plasma for the differentiation of strains of Staphylococcus aureus]. Zentralbl Bakteriol Orig (1966) 1.19
Multivisceral resection of advanced colorectal carcinoma. Langenbecks Arch Surg (1999) 1.19