Published in Mol Genet Metab on June 23, 2009
Niemann-Pick disease type C. Orphanet J Rare Dis (2010) 4.86
Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis (2013) 1.78
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis (2013) 1.33
New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat. Ther Clin Risk Manag (2009) 1.23
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2012) 1.21
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures. J Child Neurol (2012) 1.17
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J Inherit Metab Dis (2012) 1.15
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis (2015) 1.05
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis (2012) 0.99
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review. Orphanet J Rare Dis (2014) 0.96
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis (2015) 0.94
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis (2014) 0.90
Altered vitamin E status in Niemann-Pick type C disease. J Lipid Res (2011) 0.84
Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep (2012) 0.82
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. J Med Case Rep (2016) 0.78
Vitamin E dietary supplementation improves neurological symptoms and decreases c-Abl/p73 activation in Niemann-Pick C mice. Nutrients (2014) 0.78
Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry (2013) 0.78
Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol (2014) 0.78
Niemann-Pick disease treatment: a systematic review of clinical trials. Ann Transl Med (2015) 0.76
Recent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatrician. Int J Pediatr (2015) 0.76
Pluronic based β-cyclodextrin polyrotaxanes for treatment of Niemann-Pick Type C disease. Sci Rep (2017) 0.75
Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet J Rare Dis (2014) 0.75
Niemann-Pick disease type C in the newborn period: a single-center experience. Eur J Pediatr (2017) 0.75
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM (1996) 2.54
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology (2012) 2.53
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab (2003) 2.29
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology (2010) 1.88
High prevalence of hypovitaminosis D in female type 2 diabetic population. Diabetes Care (2001) 1.74
Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 1.72
Quantitative analysis of 'plaque material' in the inner- and outer wall of Schlemm's canal in normal- and glaucomatous eyes. Exp Eye Res (1986) 1.70
Sleep-related breathing disorders, loud snoring and excessive daytime sleepiness in obese subjects. Int J Obes Relat Metab Disord (2001) 1.70
Effect of shift work on body mass index: results of a study performed in 319 glucose-tolerant men working in a Southern Italian industry. Int J Obes Relat Metab Disord (2003) 1.69
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis (2012) 1.66
Clinical approach to treatable inborn metabolic diseases: an introduction. J Inherit Metab Dis (2006) 1.63
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
Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant (2003) 1.50
NTBC treatment in tyrosinaemia type I: long-term outcome in French patients. J Inherit Metab Dis (2008) 1.48
Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology (2007) 1.45
Fat depot-related differences in gene expression, adiponectin secretion, and insulin action and signalling in human adipocytes differentiated in vitro from precursor stromal cells. Diabetologia (2007) 1.42
Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities. Clin Pediatr (Phila) (1997) 1.42
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet (2007) 1.41
Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene. Hum Genet (1998) 1.40
Skeletal aspects of Gaucher disease: a review. Br J Radiol (2002) 1.39
Free triiodothyronine and thyroid stimulating hormone are directly associated with waist circumference, independently of insulin resistance, metabolic parameters and blood pressure in overweight and obese women. Clin Endocrinol (Oxf) (2007) 1.38
Prevalence of hypovitaminosis D in elderly women in Italy: clinical consequences and risk factors. Osteoporos Int (2003) 1.36
Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis (2009) 1.26
C-reactive protein is independently associated with total body fat, central fat, and insulin resistance in adult women. Int J Obes Relat Metab Disord (2001) 1.23
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat (2006) 1.18
Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis (2001) 1.17
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C. J Inherit Metab Dis (2012) 1.15
Sperm count suppression without endocrine dysfunction in lead-exposed men. Arch Environ Health (1987) 1.15
Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy. Neuropediatrics (1998) 1.12
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet (2001) 1.09
Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol (2006) 1.05
Plasma leptin is independently associated with the intima-media thickness of the common carotid artery. Int J Obes Relat Metab Disord (2001) 1.04
Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence. J Struct Biol (2008) 1.02
[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]. Z Geburtshilfe Neonatol (2007) 1.02
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry (2008) 1.01
Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2. Neurology (2001) 1.00
Neuronopathic forms of Gaucher's disease. Baillieres Clin Haematol (1997) 1.00
Validation of the Italian version of the WHO-Well-Being Questionnaire (WHO-WBQ) and the WHO-Diabetes Treatment Satisfaction Questionnaire (WHO-DTSQ). Diabetes Nutr Metab (2004) 1.00
Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Hum Mutat (2004) 0.99
High systolic blood pressure increases prevalence and severity of retinopathy in NIDDM patients. Diabetes Care (1992) 0.98
Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum Mutat (1999) 0.98
Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol (2002) 0.96
MRI in a case of adult-onset citrullinemia. Neuroradiology (2001) 0.96
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis (2012) 0.95
Exploration of the testis in infertile men. Relationships among serum levels of FSH, LH, 17-alpha-OH-progesterone and testosterone. Andrologia (1990) 0.95
Sperm count suppression without endocrine dysfunction in lead-exposed men. Arch Environ Health (1987) 0.94
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis (2009) 0.94
Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis (2005) 0.94
Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab (2012) 0.94
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. Hum Mutat (2008) 0.93
Biophysical and endocrine-metabolic changes during menopausal hot flashes: increase in plasma free fatty acid and norepinephrine levels. Gynecol Obstet Invest (1989) 0.93
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab (2012) 0.93
Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies. J Clin Neurophysiol (2001) 0.92
Aeromonas-associated gastroenteritis after consumption of contaminated shrimp. Eur J Clin Microbiol Infect Dis (1991) 0.91
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation. Bone Marrow Transplant (1999) 0.91
Lower insulin sensitivity as an independent risk factor for carotid wall thickening in normotensive, non-diabetic, non-smoking normal weight and obese premenopausal women. Int J Obes Relat Metab Disord (2000) 0.91
Prevalence and mechanisms of diurnal hypercapnia in a sample of morbidly obese subjects with obstructive sleep apnoea. Respir Med (2000) 0.90
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin Genet (2000) 0.89
Quantitative analysis of 'plaque material' between ciliary muscle tips in normal- and glaucomatous eyes. Exp Eye Res (1986) 0.89
Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res (1997) 0.89
Increase in both pro-thrombotic and anti-thrombotic factors in obese premenopausal women: relationship with body fat distribution. Int J Obes Relat Metab Disord (1997) 0.89
Effects of streptozocin diabetes and diabetes treatment by islet transplantation on in vivo insulin signaling in rat heart. Diabetes (2001) 0.89
Gender differences in serum leptin in obese people: relationships with testosterone, body fat distribution and insulin sensitivity. Eur J Clin Invest (1997) 0.89
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. Pediatr Res (1992) 0.89
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. Hum Mutat (2002) 0.88
Preprandial combination of lispro and NPH insulin improves overall blood glucose control in type 1 diabetic patients: a multicenter randomized crossover trial. Nutr Metab Cardiovasc Dis (2001) 0.88
Free testosterone plasma levels are negatively associated with the intima-media thickness of the common carotid artery in overweight and obese glucose-tolerant young adult men. Int J Obes Relat Metab Disord (2003) 0.88
[Dopamine receptors of the corneal epithelium and endothelium]. Klin Monbl Augenheilkd (2012) 0.88
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis (2008) 0.88
Insulin resistance and hypoglycemia in a patient with systemic lupus erythematosus: description of antiinsulin receptor antibodies that enhance insulin binding and inhibit insulin action. J Clin Endocrinol Metab (1991) 0.88
Insulin-like growth factor 1 (IGF-1) in multinodular goiters: a possible pathogenetic factor. Pathol Res Pract (1994) 0.87
Mucopolysaccharidosis type II--genotype/phenotype aspects. Acta Paediatr Suppl (2002) 0.87
Sea-blue histiocytosis secondary to Niemann-Pick disease type B: a case report. Ann Hematol (2001) 0.87
Effect of age, weight and lifestyle factors on calcaneal quantitative ultrasound in premenopausal women: the ESOPO study. Calcif Tissue Int (2004) 0.87
Plasma plasminogen activator inhibitor-I is associated with plasma leptin irrespective of body mass index, body fat mass, and plasma insulin and metabolic parameters in premenopausal women. Metabolism (1999) 0.86
Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA. Proc Natl Acad Sci U S A (1991) 0.86
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). Brain (2009) 0.86
Clinical presentation in female patients with Fabry disease. J Med Genet (2003) 0.86
[Traumatic glaucoma--a survey]. Klin Monbl Augenheilkd (2005) 0.86
[Ocular manifestations in patients affected by Morquio syndrome (MPS IV)]. J Fr Ophtalmol (2010) 0.86
Homocysteine plasma levels are independently associated with insulin resistance in normal weight, overweight and obese pre-menopausal women. Diabetes Nutr Metab (2001) 0.85
[An analysis of 148 outpatient treated occupational accidents]. Klin Monbl Augenheilkd (1996) 0.85
Abdominal fat accumulation, and not insulin resistance, is associated to oligomenorrhea in non-hyperandrogenic overweight/obese women. J Endocrinol Invest (2009) 0.85
[Gaucher disease in childhood]. Rev Med Interne (2007) 0.85
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case. Acta Paediatr Taiwan (2000) 0.85
Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders. J Comput Assist Tomogr (1992) 0.84
1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease. Hum Mol Genet (1993) 0.84
Primary Sjögren's syndrome presenting as progressive parkinsonian syndrome. Mov Disord (1997) 0.84
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. J Neurol Neurosurg Psychiatry (2008) 0.84
Diagnosis of inborn errors of metabolism by acylcarnitine profiling in blood using tandem mass spectrometry. J Inherit Metab Dis (1997) 0.84
sP-selectin plasma levels in obesity: association with insulin resistance and related metabolic and prothrombotic factors. Nutr Metab Cardiovasc Dis (2007) 0.84
[General anesthesia vs. retrobulbar anesthesia in cataract surgery. A randomized comparison of patients at risk]. Anaesthesist (1992) 0.84