Published in Mol Genet Metab on June 01, 2002
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. J Korean Med Sci (2012) 0.97
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. Orphanet J Rare Dis (2014) 0.87
Current pathogenetic aspects of hepatic encephalopathy and noncirrhotic hyperammonemic encephalopathy. World J Gastroenterol (2013) 0.83
Characterization of the human ornithine transcarbamylase 3' untranslated regulatory region. DNA Cell Biol (2011) 0.77
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med (1998) 3.28
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet (1998) 2.72
Type I interferon as a powerful adjuvant for monocyte-derived dendritic cell development and activity in vitro and in Hu-PBL-SCID mice. J Exp Med (2000) 2.69
Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta (2004) 2.52
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell (1995) 1.95
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol (2000) 1.82
Expression of proinflammatory and Th1 but not Th2 cytokines is enhanced in gastric mucosa of Helicobacter pylori infected children. Dig Liver Dis (2001) 1.77
Multidisciplinary management of Hunter syndrome. Pediatrics (2009) 1.76
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases. Bone Marrow Transplant (2003) 1.47
Carbonic anhydrase II deficiency: diagnosis and carrier detection using differential enzyme inhibition and inactivation. Am J Hum Genet (1986) 1.44
Sudden infant death and multiple acyl-CoA dehydrogenation disorders. Eur J Pediatr (1995) 1.43
Hepatitis C virus antibodies in a long-term follow-up of beta-thalassaemic children with acute and chronic non-A non-B hepatitis. Eur J Pediatr (1992) 1.40
Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr (1994) 1.39
Vertebral and carotid artery dissection following chiropractic cervical manipulation. Neurosurg Rev (1999) 1.38
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
Prospective controlled study of home and hospital therapy of cystic fibrosis pulmonary disease. J Pediatr (1987) 1.32
Detection of Helicobacter pylori in stool specimens by non-invasive antigen enzyme immunoassay in children: multicentre Italian study. BMJ (2000) 1.30
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis (2007) 1.25
Chimeric plant virus particles as immunogens for inducing murine and human immune responses against human immunodeficiency virus type 1. J Virol (2001) 1.25
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency. J Med Genet (2003) 1.23
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19
Type I interferon is a powerful inhibitor of in vivo HIV-1 infection and preserves human CD4(+) T cells from virus-induced depletion in SCID mice transplanted with human cells. Virology (1999) 1.19
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry (2008) 1.19
Telomerase activity and hTERT mRNA expression in glial tumors. Int J Oncol (2006) 1.18
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat (2006) 1.18
Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur J Pediatr (1996) 1.17
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet (2002) 1.17
Diagnosis of glycogenosis type II. Neurology (2008) 1.16
Genetic screening for pheochromocytoma: should SDHC gene analysis be included? J Med Genet (2007) 1.15
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr (2007) 1.14
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet (2000) 1.13
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J Med Genet (2003) 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
Simultaneous occurrence of linear scleroderma and homolateral segmental vitiligo. J Eur Acad Dermatol Venereol (2006) 1.11
Resection of single brain metastasis in non-small-cell lung cancer: prognostic factors. J Thorac Cardiovasc Surg (1996) 1.10
Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics (1989) 1.09
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. J Inherit Metab Dis (2005) 1.07
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. J Inherit Metab Dis (2007) 1.06
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
Vaginal transmission of HIV-1 in hu-SCID mice: a new model for the evaluation of vaginal microbicides. AIDS (2001) 1.04
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat (2000) 1.03
Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. Neuropediatrics (1994) 1.02
Prospective validation of a proposal for diagnosis and management of patients attending the emergency department for mild head injury. J Neurol Neurosurg Psychiatry (2004) 1.02
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. Hum Mutat (2004) 1.01
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism (1996) 1.01
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet (2011) 1.00
Ototoxicity of aminoglycoside antibiotics in infants and children. Pediatr Infect Dis (1983) 1.00
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol (2009) 0.99
Short fourth metacarpal in homocystinuria. Pediatr Radiol (1985) 0.99
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet (1988) 0.99
Long survival of a patient with Marshall-Smith syndrome without respiratory complications. J Med Genet (1993) 0.99
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. J Clin Invest (1993) 0.99
Ultrafast three-dimensional ultrasound: application to carotid artery imaging. Stroke (1998) 0.98
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. FEBS Lett (1999) 0.98
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. Clin Genet (1979) 0.98
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr (2003) 0.97
Angiogenesis in intracranial meningiomas: immunohistochemical and molecular study. Neuropathol Appl Neurobiol (2004) 0.97
Pulmonary manifestations of Gaucher disease: an increased risk for L444P homozygotes? Am J Respir Crit Care Med (1998) 0.97
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet (1999) 0.97
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol (2001) 0.97
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet (2000) 0.96
Radioimmunoassay to detect antitransglutaminase autoantibodies is the most sensitive and specific screening method for celiac disease. Am J Gastroenterol (2001) 0.96
Management and treatment of glycogenosis type II. Neurology (2008) 0.95
Pre- and post-dialysis quantitative dosage of thymidine in urine and plasma of a MNGIE patient by using HPLC-ESI-MS/MS. J Mass Spectrom (2006) 0.95
Inhibition of human immunodeficiency virus (HIV-1) infection in human peripheral blood leucocytes-SCID reconstituted mice by rapamycin. Clin Exp Immunol (2009) 0.95
Is there a relationship between extensive mongolian spots and inborn errors of metabolism? Am J Med Genet (1999) 0.95