Published in Hum Mutat on December 01, 2004
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. Biomed Res Int (2013) 1.02
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. J Inherit Metab Dis (2009) 0.90
Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. J Inherit Metab Dis (2010) 0.89
The biochemical basis of hereditary fructose intolerance. J Inherit Metab Dis (2010) 0.86
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. JIMD Rep (2012) 0.79
Genetic diseases that predispose to early liver cirrhosis. Int J Hepatol (2014) 0.75
Screening of hepatocyte proteins binding with C‑terminally truncated surface antigen middle protein of hepatitis B virus (MHBst167) by a yeast two‑hybrid system. Mol Med Rep (2014) 0.75
A gene network regulating lysosomal biogenesis and function. Science (2009) 7.17
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell (2003) 2.71
Histone deacetylase and Cullin3-REN(KCTD11) ubiquitin ligase interplay regulates Hedgehog signalling through Gli acetylation. Nat Cell Biol (2010) 2.25
Long-term outcome of bone mineral density in children who underwent a successful liver transplantation. Transplantation (2004) 2.04
High sustained virologic response rates in children with chronic hepatitis C receiving peginterferon alfa-2b plus ribavirin. J Hepatol (2010) 2.01
Genetic modifiers of liver disease in cystic fibrosis. JAMA (2009) 1.88
Combined CD133/CD44 expression as a prognostic indicator of disease-free survival in patients with colorectal cancer. Arch Surg (2012) 1.86
Acute surgical abdomen as presenting manifestation of Kawasaki disease. J Pediatr (2003) 1.70
A validated HPLC stability-indicating method for the determination of diacerhein in bulk drug substance. J Pharm Biomed Anal (2005) 1.63
Genotype-phenotype correlation in Italian children with Wilson's disease. J Hepatol (2008) 1.63
Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene. Clin Endocrinol (Oxf) (2012) 1.60
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. J Inherit Metab Dis (2011) 1.57
Ischemic neoangiogenesis enhanced by beta2-adrenergic receptor overexpression: a novel role for the endothelial adrenergic system. Circ Res (2005) 1.57
Sustained Epstein-Barr virus detection in paediatric liver transplantation. Insights into the occurrence of late PTLD. Liver Transpl (2007) 1.52
Long-term course of chronic hepatitis C in children: from viral clearance to end-stage liver disease. Gastroenterology (2008) 1.52
Liver steatosis in children with chronic hepatitis C. Am J Gastroenterol (2006) 1.46
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med (2013) 1.44
Management of chronic hepatitis C in childhood: the impact of therapy in the clinical practice during the first 2 decades. Dig Liver Dis (2010) 1.42
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. J Child Neurol (2005) 1.40
Crystal structure of the collagen triple helix model [(Pro-Pro-Gly)(10)](3). Protein Sci (2002) 1.36
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat (2004) 1.36
Prion and water: tight and dynamical hydration sites have a key role in structural stability. Proc Natl Acad Sci U S A (2005) 1.30
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
A new nerve growth factor-mimetic peptide active on neuropathic pain in rats. J Neurosci (2008) 1.25
Molecular dynamics analyses of cross-beta-spine steric zipper models: beta-sheet twisting and aggregation. Proc Natl Acad Sci U S A (2006) 1.22
MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels. Hum Mol Genet (2009) 1.21
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. Pathogenetics (2008) 1.20
Neuroprotective effect of cannabidiol, a non-psychoactive component from Cannabis sativa, on beta-amyloid-induced toxicity in PC12 cells. J Neurochem (2004) 1.20
Chronic hepatitis C virus infection in childhood: clinical patterns and evolution in 224 white children. Clin Infect Dis (2003) 1.18
Crystal structure of the alcohol dehydrogenase from the hyperthermophilic archaeon Sulfolobus solfataricus at 1.85 A resolution. J Mol Biol (2002) 1.17
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Am J Physiol Cell Physiol (2010) 1.17
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther (2009) 1.17
AKT participates in endothelial dysfunction in hypertension. Circulation (2004) 1.15
Novel synthetic, salt-resistant analogs of human beta-defensins 1 and 3 endowed with enhanced antimicrobial activity. Antimicrob Agents Chemother (2010) 1.14
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr (2005) 1.13
Isolated hepatocyte transplantation for Crigler-Najjar syndrome type 1. Cell Transplant (2005) 1.12
Clinical features and progression of perinatally acquired hepatitis C virus infection. J Med Virol (2003) 1.12
Fibrosis in chronic hepatitis C acquired in infancy: is it only a matter of time? Am J Gastroenterol (2003) 1.12
Liver and cardiac function in the long term after Fontan operation. Ann Thorac Surg (2008) 1.10
Physical aspects of protein crystal growth investigated with the Advanced Protein Crystallization Facility in reduced-gravity environments. Acta Crystallogr D Biol Crystallogr (2002) 1.10
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet (2002) 1.08
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles. Hum Mutat (2011) 1.07
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat (2009) 1.07
Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol (2006) 1.06
An altered gut microbiome profile in a child affected by Crohn's disease normalized after nutritional therapy. Am J Gastroenterol (2013) 1.06
Crystal structure of a ternary complex of the alcohol dehydrogenase from Sulfolobus solfataricus. Biochemistry (2003) 1.06
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat. Am J Med Genet A (2011) 1.05
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab (2012) 1.05
Serum transaminases in children with Wilson's disease. J Pediatr Gastroenterol Nutr (2004) 1.04
Molecular organization of the cullin E3 ligase adaptor KCTD11. Biochimie (2011) 1.04
Correlation between omega and psi dihedral angles in protein structures. J Mol Biol (2005) 1.03
Mucopolysaccharidosis VI: the Italian experience. Eur J Pediatr (2009) 1.03
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab (2005) 1.03
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab (2005) 1.01
BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene (2002) 1.00
Critical lysine residues within the overlooked N-terminal domain of human APE1 regulate its biological functions. Nucleic Acids Res (2010) 1.00
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet (2007) 0.99
Structural and hydration properties of the partially unfolded states of the prion protein. Biophys J (2007) 0.99
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One (2008) 0.98
Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology (2004) 0.98
Neutrophilic-chronic myeloid leukemia: low levels of p230 BCR/ABL mRNA and undetectable BCR/ABL protein may predict an indolent course. Cancer (2002) 0.98
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res (2006) 0.96
High Fat Diet Induces Liver Steatosis and Early Dysregulation of Iron Metabolism in Rats. PLoS One (2013) 0.96
Protein cross-talk in CD133+ colon cancer cells indicates activation of the Wnt pathway and upregulation of SRp20 that is potentially involved in tumorigenicity. Proteomics (2012) 0.96
Haemophilia A: molecular insights. Clin Chem Lab Med (2007) 0.96
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Hum Mutat (2009) 0.95
Therapeutic options in pediatric non alcoholic fatty liver disease: current status and future directions. Ital J Pediatr (2012) 0.95
Peptide bond distortions from planarity: new insights from quantum mechanical calculations and peptide/protein crystal structures. PLoS One (2011) 0.95
Divergent modulation of iron regulatory proteins and ferritin biosynthesis by hypoxia/reoxygenation in neurones and glial cells. J Neurochem (2005) 0.94
Carotid artery remodeling in middle-aged women with the metabolic syndrome (from the "Progetto ATENA" study). Am J Cardiol (2005) 0.94
Insights into structure, stability, and toxicity of monomeric and aggregated polyglutamine models from molecular dynamics simulations. Biophys J (2008) 0.94
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Am J Med Genet A (2005) 0.94
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr (2004) 0.93
Isoniazid-related fulminant hepatic failure in a child: assessment of the native liver's early regeneration after auxiliary partial orthotopic liver transplantation. Transpl Int (2004) 0.93
High resolution crystal structure of deoxy hemoglobin from Trematomus bernacchii at different pH values: the role of histidine residues in modulating the strength of the root effect. Proteins (2006) 0.92
Brain damage in glycogen storage disease type I. J Pediatr (2004) 0.92
CD66c is a novel marker for colorectal cancer stem cell isolation, and its silencing halts tumor growth in vivo. Cancer (2012) 0.91
Molecular response to imatinib in late chronic-phase chronic myeloid leukemia. Blood (2003) 0.91
Microbial diversity in natural whey cultures used for the production of Caciocavallo Silano PDO cheese. Int J Food Microbiol (2008) 0.91
Monocyte chemotactic protein-3 induces human coronary smooth muscle cell proliferation. Atherosclerosis (2011) 0.91
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy (2015) 0.91
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat (2009) 0.91
Role of side chains in collagen triple helix stabilization and partner recognition. J Pept Sci (2009) 0.91
Clinical phenotype of lathosterolosis. Am J Med Genet A (2007) 0.90
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. Hum Mutat (2011) 0.90
Decreased paraoxonase-2 expression in human carotids during the progression of atherosclerosis. Arterioscler Thromb Vasc Biol (2008) 0.90
Inflammatory bowel disease developing in paediatric and adult age. J Pediatr Gastroenterol Nutr (2010) 0.90
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells. J Child Neurol (2007) 0.89
Hepatitis B virus reactivation after fludarabine-based regimens for indolent non-Hodgkin's lymphomas: high prevalence of acquired viral genomic mutations. Haematologica (2003) 0.89
Structure and cytotoxicity of phidianidines A and B: first finding of 1,2,4-oxadiazole system in a marine natural product. Org Lett (2011) 0.89
Epidemiological profile of 806 Italian children with hepatitis C virus infection over a 15-year period. J Hepatol (2007) 0.89
Lessons from crystals grown in the Advanced Protein Crystallisation Facility for conventional crystallisation applied to structural biology. Biophys Chem (2005) 0.89
Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics (2005) 0.89
Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. J Proteome Res (2009) 0.89
Reversible substrate-induced domain motions in ribonuclease A. Proteins (2002) 0.89
Interactions of the cytotoxic RNase A dimers with the cytosolic ribonuclease inhibitor. FEBS Lett (2005) 0.89