Published in J Inherit Metab Dis on January 01, 1992
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr (2003) 1.86
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis (2000) 1.03
Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis (1997) 0.99
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis (2010) 0.98
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Arch Dis Child (1995) 0.96
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis (2009) 0.95
Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol (1994) 0.93
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev (2013) 0.86
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet (2006) 0.84
The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I). J Inherit Metab Dis (1998) 0.84
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity. J Inherit Metab Dis (1997) 0.80
Cardiac involvement in hereditary ataxias. J Child Neurol (2012) 0.75
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. Iran J Pediatr (2014) 0.75
Congenital disorders of glycosylation with neonatal presentation. BMJ Case Rep (2014) 0.75
Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome. Pediatr Cardiol (2003) 0.75
Frontotemporal dementia in elderly individuals. Arch Neurol (2012) 2.21
Characterization of human liver alpha-D-mannosidase purified by affinity chromatography. Biochem J (1976) 1.94
Human mannosidosis--the enzyme defect. Biochem Biophys Res Commun (1972) 1.79
Adaptation of the nitrate reductase and Griess reaction methods for the measurement of serum nitrate plus nitrite levels. Ann Clin Biochem (1997) 1.63
Human liver alpha-D-mannosidase activity. Clin Chim Acta (1974) 1.58
Mannosidosis in Angus cattle. The enzymic defect. Biochem J (1974) 1.51
Biochemical studies on a case of feline mannosidosis. Biochem J (1980) 1.38
The role of [18F]fluoro-2-deoxyglucose-PET scanning in the diagnosis of paraneoplastic neurological disorders. Brain (2001) 1.32
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet (2001) 1.29
A specific ELISA for measuring neurofilament heavy chain phosphoforms. J Immunol Methods (2003) 1.24
A rapid method for detecting oligoclonal IgG in unconcentrated CSF, by agarose isoelectric focusing, transfer to cellulose nitrate and immunoperoxidase staining. J Neuroimmunol (1983) 1.19
Defective galactosylation of serum transferrin in galactosemia. Glycobiology (1998) 1.17
Diagnostic strategy used to establish etiologies of encephalitis in a prospective cohort of patients in England. J Clin Microbiol (2011) 1.17
Markers for different glial cell responses in multiple sclerosis: clinical and pathological correlations. Brain (2002) 1.13
Anti-myelin antibodies do not allow earlier diagnosis of multiple sclerosis. Mult Scler (2005) 1.11
Axonal damage and outcome in subarachnoid haemorrhage. J Neurol Neurosurg Psychiatry (2006) 1.08
Daily urinary neopterin excretion as an immunological marker of disease activity in multiple sclerosis. Brain (1997) 1.07
An ELISA for glial fibrillary acidic protein. J Immunol Methods (2004) 1.07
Axonal damage accumulates in the progressive phase of multiple sclerosis: three year follow up study. J Neurol Neurosurg Psychiatry (2005) 1.07
Enzyme replacement therapy--an experiment of nature in a chimeric mannosidosis calf. Pediatr Res (1976) 1.06
Antigen-dependent intrathecal antibody synthesis in the normal rat brain: tissue entry and local retention of antigen-specific B cells. J Immunol (1998) 1.05
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child (1991) 1.04
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis (2000) 1.03
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders. FEBS Lett (1998) 1.03
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). J Med Genet (1998) 1.03
Evidence that the mutant enzyme in fibroblasts of a patient with mannosidosis does not crossreact with antiserum raised against normal acidic alpha-D-mannosidase. FEBS Lett (1978) 1.02
Swainsonine affects the processing of glycoproteins in vivo. FEBS Lett (1983) 1.00
A specific and sensitive ELISA for measuring S-100b in cerebrospinal fluid. J Immunol Methods (1997) 0.99
Post-streptococcal opsoclonus-myoclonus syndrome associated with anti-neuroleukin antibodies. J Neurol Neurosurg Psychiatry (2006) 0.99
Cerebrospinal fluid S100B correlates with brain atrophy in Alzheimer's disease. Neurosci Lett (2003) 0.99
Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet (1993) 0.97
Cerebrospinal fluid (CSF) and serum S100B: release and wash-out pattern. Brain Res Bull (2003) 0.97
Treatment response in relation to inflammatory and axonal surrogate marker in multiple sclerosis. Mult Scler (2004) 0.97
Quantification of neurodegeneration by measurement of brain-specific proteins. J Neuroimmunol (2003) 0.97
Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Arch Dis Child (1995) 0.96
Sequence variations in the first exon of alpha-galactosidase A. J Med Genet (1993) 0.96
A systematic review and meta-analysis of CSF neurofilament protein levels as biomarkers in dementia. Neurodegener Dis (2007) 0.95
CSF protein biomarkers for proximal axonal damage improve prognostic accuracy in the acute phase of Guillain-Barré syndrome. Muscle Nerve (2009) 0.95
Laboratory investigation of cerebrospinal fluid proteins. Ann Clin Biochem (1990) 0.95
Age-related changes in cerebrospinal fluid protein concentrations. J Neurol Sci (1991) 0.95
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis (2005) 0.94
Characterization of the mutant alpha-mannosidase in bovine mannosidosis. Biochem J (1978) 0.94
A micro-method for measuring total protein in cerebrospinal fluid by using benzethonium chloride in microtiter plate wells. Clin Chem (1989) 0.94
The spectrum of antineuronal autoantibodies in a series of neurological patients. J Neurol Sci (2004) 0.93
The substrate specificity of bovine and feline lysosomal alpha-D-mannosidases in relation to alpha-mannosidosis. J Biol Chem (1991) 0.93
The significance of serum oligoclonal bands in neurological diseases. J Neurol Neurosurg Psychiatry (1993) 0.93
Acute axonal damage predicts clinical outcome in patients with multiple sclerosis. Mult Scler (2005) 0.92
Serum and urine nitrate and nitrite are not reliable indicators of intrathecal nitric oxide production in acute brain injury. J Neurol Sci (2003) 0.91
Nitrocellulose immunofixation following agarose electrophoresis in the study of immunoglobulin G subgroups in unconcentrated cerebrospinal fluid. Clin Chim Acta (1982) 0.91
Viral immunoblotting: a sensitive method for detecting viral-specific oliogoclonal bands in unconcentrated cerebrospinal fluid. Biosci Rep (1984) 0.90
Comparison of the N-acetylhexosaminidase components in the ram testis and epididymis by isoelectric focusing. Biochem J (1971) 0.90
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx . J Inherit Metab Dis (2003) 0.89
Improved detection of oligoclonal and Bence-Jones proteins by kappa/lambda immunoblotting. Clin Chim Acta (1984) 0.88
The new global multiple sclerosis severity score (MSSS) correlates with axonal but not glial biomarkers. Mult Scler (2006) 0.88
A sensitive and reproducible method for the detection of oligoclonal IgM bands. J Immunol Methods (2001) 0.87
Soluble E-selectin in multiple sclerosis: raised concentrations in patients with primary progressive disease. J Neurol Neurosurg Psychiatry (1996) 0.87
Axonal pathology in subarachnoid and intracerebral hemorrhage. J Neurotrauma (2005) 0.87
Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology. Clin Chem (2001) 0.86
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J Med Genet (2004) 0.86
The nature of the residual alpha-mannosidase in plasma in bovine mannosidosis. Biochem J (1976) 0.86
Antigenic differences between neurological and diabetic patients with anti-glutamic acid decarboxylase antibodies. Eur J Neurol (2005) 0.85
Protein adsorption to hydrocephalus shunt catheters: CSF protein adsorption. J Neurol Neurosurg Psychiatry (1998) 0.84
Assessment of cerebrospinal fluid immunoglobulin patterns after isoelectric focusing. Use of kappa and lambda light chain immunoperoxidase staining. J Neurol Sci (1983) 0.84
Prenatal diagnosis of lysosomal storage diseases. Brain Pathol (1998) 0.84
Strain variation in spermatozoal glycosidases in inbred mice. Genet Res (1978) 0.84
Measurement of the alpha-mannosidase activities in human plasma by a differential assay. Clin Chim Acta (1977) 0.84
The molecular defect underlying canine fucosidosis. J Med Genet (1996) 0.83
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. J Inherit Metab Dis (2009) 0.83
GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathol (2000) 0.83
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. J Med Genet (2000) 0.83
A serological investigation into the acidic alpha-D-mannosidase in normal Angus cattle and in a calf with mannosidosis. Biochem J (1977) 0.83
Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet (1993) 0.82
Glutaraldehyde-enhanced immunofixation: a sensitive new method for detecting oligoclonal immunoglobulin M. J Neuroimmunol (1989) 0.82
Improving the recovery of S100B protein in cerebral microdialysis: implications for multimodal monitoring in neurocritical care. J Neurosci Methods (2009) 0.82
Haptoglobins as markers of blood-CSF barrier dysfunction: the findings in normal CSF. J Neurol Sci (2001) 0.82
Cerebrospinal fluid levels of brain specific proteins in optic neuritis. Mult Scler (2004) 0.81
Proteins as parameters in the discrimination between different blood-CSF barriers. J Neurol Sci (1986) 0.81
Study of the thermal denaturation of ribonuclease A by differential thermal analysis and susceptibility to proteolysis. Biochem J (1970) 0.81
Intrathecal synthesis of IgM in neurological diseases: a comparison between detection of oligoclonal bands and quantitative estimation. J Neurol Sci (1990) 0.81
The longitudinal profile of CSF markers during external lumbar drainage. J Neurol Neurosurg Psychiatry (2009) 0.80
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity. J Inherit Metab Dis (1997) 0.80
Immunological characterization of human alpha-D-mannosidases. Biochem Soc Trans (1975) 0.80
Enzyme purification by electrodecantation. Biochem J (1971) 0.80
Extracellular fluid S100B in the injured brain: a future surrogate marker of acute brain injury? Acta Neurochir (Wien) (2005) 0.80
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. Prenat Diagn (1998) 0.80
The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation. Biochem Soc Trans (1995) 0.80
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. Glycoconj J (1996) 0.80
Cerebrospinal Fluid Studies in Kenyan Children with Severe Falciparum Malaria. Open Trop Med J (2008) 0.80
Bovine mannosidosis--a model lysosomal storage disease. Birth Defects Orig Artic Ser (1975) 0.79
Iso-electric focusing of aqueous humour IgG in multiple sclerosis. J Neurol (1994) 0.79
Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation. Ann Clin Biochem (1999) 0.79
Substrate specificity of the bovine and feline neutral alpha-mannosidases. Biochem J (1992) 0.79
GM1 gangliosidosis (type 1) in a cat. Biochem J (1986) 0.79
A new form of ovine GM1-gangliosidosis. Acta Neuropathol (1995) 0.79
Two-dimensional protein mapping by gold stain and immunoblotting. Anal Biochem (1988) 0.79
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. Arch Dis Child (2001) 0.79
Rapid clinical and CSF response to intravenous gamma globulin in acute disseminated encephalomyelitis. Eur J Neurol (2001) 0.79
Prevalence and long-term significance of paraproteinaemia in rheumatoid arthritis. Rheumatology (Oxford) (2006) 0.78
CSF neurofilament levels: a potential prognostic marker in Guillain-Barré syndrome. Neurology (2006) 0.78