Published in Wien Klin Wochenschr on February 01, 2010
Appropriateness of newborn screening for classic galactosaemia: a systematic review. J Inherit Metab Dis (2016) 0.75
A simple spot screening test for galactosemia. J Lab Clin Med (1966) 2.78
Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis (1990) 2.68
The human galactose-1-phosphate uridyltransferase gene. Genomics (1992) 1.67
Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet (1999) 1.67
Variability in the clinical manifestations of galactosemia. J Pediatr (1961) 1.64
Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest (2008) 1.57
Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med (1981) 1.47
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening. Mol Genet Metab (2008) 1.40
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat (1999) 1.37
Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase. Mol Biol Med (1988) 1.30
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY. Lancet (1965) 1.28
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci U S A (1991) 1.24
Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet (1995) 1.23
Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur J Hum Genet (1999) 1.12
Speech and language deficits in early-treated children with galactosemia. J Pediatr (1983) 1.11
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat (1997) 1.11
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab (2001) 1.07
A common mutation associated with the Duarte galactosemia allele. Am J Hum Genet (1994) 1.04
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT). Hum Genet (1994) 1.03
Verbal dyspraxia and galactosemia. Pediatr Res (2003) 0.98
Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta (1987) 0.97
Long-term follow-up of galactosaemia. Arch Dis Child (1970) 0.96
Identification of novel mutations in classical galactosemia. Hum Mutat (2005) 0.95
Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inherit Metab Dis (1996) 0.94
Outcomes analysis of verbal dyspraxia in classic galactosemia. Genet Med (2001) 0.93
Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr (2000) 0.88
Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles. J Med Genet (1999) 0.88
Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inherit Metab Dis (2006) 0.85
Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase. J Inherit Metab Dis (1999) 0.85
Molecular characterization of Polish patients with classical galactosaemia. J Inherit Metab Dis (1999) 0.84
Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer. Wien Klin Wochenschr (2006) 0.81
Growth and development of children with galactosemia. J Pediatr (1961) 0.80
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. Ann Neurol (2002) 2.09
Association of some rare haplotypes and genotype combinations in the MDR1 gene with childhood acute lymphoblastic leukaemia. Leuk Res (2008) 1.66
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. Clin Chem (2008) 1.47
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin Chim Acta (2010) 1.16
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Am J Respir Cell Mol Biol (2005) 1.08
Donor-cell myelodysplastic syndrome developing 13 years after marrow grafting for aplastic anemia. Cancer Genet Cytogenet (2003) 0.97
Safety and efficacy of a lipid emulsion containing a mixture of soybean oil, medium-chain triglycerides, olive oil, and fish oil: a randomised, double-blind clinical trial in premature infants requiring parenteral nutrition. J Pediatr Gastroenterol Nutr (2010) 0.95
Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases. Eur J Pediatr (2007) 0.94
Fast and robust next-generation sequencing technique using ion torrent personal genome machine for the screening of neurofibromatosis type 1 (NF1) gene. J Mol Neurosci (2014) 0.90
The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis. Int Immunol (2006) 0.90
Genetic variants of TNF-[FC12]a, IL-1beta, IL-4 receptor [FC12]a-chain, IL-6 and IL-10 genes are not risk factors for sepsis in low-birth-weight infants. Biol Neonate (2003) 0.88
Lower prevalence of IL-4 receptor alpha-chain gene G variant in very-low-birth-weight infants with necrotizing enterocolitis. J Pediatr Surg (2003) 0.86
Interleukin genetic variants and the risk of renal failure in infants with infection. Pediatr Nephrol (2002) 0.83
Six cases of rare gene amplifications and multiple copy of fusion gene in childhood acute lymphoblastic leukemia. Pathol Oncol Res (2012) 0.83
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency. Endocrine (2006) 0.83
Multiple splice variants of EWSR1-ETS fusion transcripts co-existing in the Ewing sarcoma family of tumors. Cell Oncol (Dordr) (2013) 0.82
Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease. Mol Genet Metab (2008) 0.82
PKCdelta is a positive regulator of chondrogenesis in chicken high density micromass cell cultures. Biochimie (2010) 0.81
Cell culture density dependent toxicity and chromatin changes upon cadmium treatment in murine pre-B-cells. Apoptosis (2007) 0.80
Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure. Mol Cytogenet (2013) 0.80
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. J Inherit Metab Dis (2010) 0.80
Chiral separation by a monofunctionalized cyclodextrin derivative: from selector to permethyl-beta-cyclodextrin bonded stationary phase. J Pharm Biomed Anal (2009) 0.79
Assessing toxicity of polyamidoamine dendrimers by neuronal signaling functions. Nanotoxicology (2011) 0.79
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. Mol Genet Metab (2006) 0.79
Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families. Mol Cell Probes (2010) 0.78
Comparative analysis of osteogenic/chondrogenic differentiation potential in primary limb bud-derived and C3H10T1/2 cell line-based mouse micromass cultures. Int J Mol Sci (2013) 0.77
Fermented wheat germ extract reduces chemotherapy-induced febrile neutropenia in pediatric cancer patients. J Pediatr Hematol Oncol (2004) 0.77
Childhood leukaemia incidence in Hungary, 1973-2002. Interpolation model for analysing the possible effects of the Chernobyl accident. Eur J Epidemiol (2005) 0.77
Some GCR Polymorphisms (N363S, ER22/23EK, and Bcl-1) May Influence Steroid-induced Toxicities and Survival Rates in Children With ALL. J Pediatr Hematol Oncol (2016) 0.77
Jumping translocation of 17q11 approximately qter and 3q25 approximately q28 duplication in a variant Philadelphia t(9;14;22)(q34;q32;q11) in a childhood chronic myelogenous leukemia. Cancer Genet Cytogenet (2006) 0.77
The prevalence and incidence of Helicobacter pylori infections among young recruits during service in the Hungarian Army. Helicobacter (2004) 0.77
Chemically induced carcinogenesis affecting chromatin structure in rat hepatocarcinoma cells. DNA Cell Biol (2007) 0.77
The role of ABC-transporter gene polymorphisms in chemotherapy induced immunosuppression, a retrospective study in childhood acute lymphoblastic leukaemia. Cell Immunol (2007) 0.76
Pituitary adenylate cyclase-activating polypeptide (PACAP) signalling enhances osteogenesis in UMR-106 cell line. J Mol Neurosci (2014) 0.76
Prevalence of antiphospholipid and antinuclear antibodies in children with epilepsy. Med Sci Monit (2009) 0.76
Supranucleosomal organization of chromatin fibers in nuclei of Drosophila S2 cells. DNA Cell Biol (2007) 0.76
Wegener's granulomatosis presenting as pyoderma gangrenosum. Int J Dermatol (2003) 0.76
Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases. JIMD Rep (2012) 0.75
Meropenem in the treatment of febrile neutropenic children. Pediatr Hematol Oncol (2005) 0.75
Clinical relevance of anti-phospholipid antibody tests in childhood. Eur J Pediatr (2004) 0.75
Multipoint interphase FISH analysis of chromosome 3 abnormalities in 28 childhood AML patients. Eur J Haematol (2006) 0.75
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene. JIMD Rep (2015) 0.75
[Neurological complications of Fabry-disease]. Ideggyogy Sz (2011) 0.75
[Intrachromosomal amplification of AML1 gene in childhood acute lymphoblastic leukemia]. Orv Hetil (2008) 0.75
Fermented Wheat Germ Extract Reduces Chemotherapy-Induced Febrile Neutropenia in Pediatric Cancer Patients. J Pediatr Hematol Oncol (2004) 0.75
[Cytogenetic and FISH findings are complementary in childhood ALL]. Magy Onkol (2008) 0.75
[Meropenem therapy in children with febrile neutropenia]. Orv Hetil (2003) 0.75
[Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)]. Ideggyogy Sz (2008) 0.75
Effect of somatostatin analogue octreotide in medulloblastoma in xenograft and cell culture study. Pediatr Hematol Oncol (2009) 0.75
Multipoint interphase FISH in childhood T-acute lymphoblastic leukemia detects subpopulations that carry different chromosome 3 aberrations. Cancer Genet Cytogenet (2007) 0.75
[Incomplete androgen insensitivity]. Orv Hetil (2006) 0.75
[Management of Fabry disease]. Orv Hetil (2010) 0.75
Rapid detection of cystic fibrosis transmembrane conductance regulator gene IVS8 5T variant by real-time PCR. Clin Chem (2004) 0.75
[Identification of 3q21q26 syndrome by "multipoint" interphase FISH analyses in childhood myeloid leukemia]. Magy Onkol (2005) 0.75
[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity]. Orv Hetil (2006) 0.75
[Epidemiologic surveillance of childhood leukemia in Hungary over the past 21 years (1980-2000)]. Orv Hetil (2002) 0.75
[Clinical characteristics of juvenile dermatomyositis]. Orv Hetil (2003) 0.75
[Frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Hungarian population]. Orv Hetil (2009) 0.75
[Fabry disease--diagnostic guideline]. Orv Hetil (2010) 0.75
Utilisation of fluorescent multiplex PCR and laser-induced capillary electrophoresis for the diagnosis of Ewing family of tumours in formalin-fixed paraffin-embedded tissues. J Clin Pathol (2012) 0.75
Toxic encephalopathy and delayed MTX clearance after high-dose methotrexate therapy in a child homozygous for the MTHFR C677T polymorphism. Anticancer Res (2008) 0.75
Structure and stability of warfarin-sodium inclusion complexes formed with permethylated monoamino-β-cyclodextrin. J Pharm Biomed Anal (2012) 0.75
Antiphospholipid syndrome accompanied by a silent splenic infarct in a patient with juvenile SLE. Rheumatol Int (2006) 0.75
[Fenotypical diversity of hereditary non-polyposis colorectal carcinoma. Pedigree and genetical analysis of two mutation carrier patients]. Magy Seb (2006) 0.75
Mutational analysis of Hungarian patients with androgen insensitivity syndrome. J Pediatr Endocrinol Metab (2003) 0.75
Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases. JIMD Rep (2012) 0.75
[Disease course, frequency of relapses and survival of patients with juvenile or adult dermatomyositis]. Orv Hetil (2007) 0.75
Single-tube multiplex PCR and capillary electrophoresis for the detection of bcl2-IgH chimeras. Haematologia (Budap) (2002) 0.75