Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis (2008) 1.34

p38 MAPK regulates PKAα and CUB-serine protease in Amphibalanus amphitrite cyprids. Sci Rep (2015) 0.78

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene. Mol Genet Metab Rep (2016) 0.75

Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med (2003) 2.88

Validation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed? Eur Urol (2010) 2.82

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat (2009) 2.34

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32

Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program (2003) 2.30

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet (2005) 2.24

Reduced histone biotinylation in multiple carboxylase deficiency patients: a nuclear role for holocarboxylase synthetase. Hum Mol Genet (2003) 2.07

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood (2007) 1.95

Combination of bevacizumab and docetaxel in docetaxel-pretreated hormone-refractory prostate cancer: a phase 2 study. Eur Urol (2008) 1.91

A first prospective, randomized, double-blind, placebo-controlled clinical trial evaluating extracorporeal shock wave therapy for the treatment of Peyronie's disease. Eur Urol (2009) 1.91

Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat (2011) 1.91

Differential role of CD133 and CXCR4 in renal cell carcinoma. Cell Cycle (2010) 1.73

Features associated with recurrence beyond 5 years after nephrectomy and nephron-sparing surgery for renal cell carcinoma: development and internal validation of a risk model (PRELANE score) to predict late recurrence based on a large multicenter database (CORONA/SATURN Project). Eur Urol (2012) 1.69

Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 1.67

Time to recurrence is a significant predictor of cancer-specific survival after recurrence in patients with recurrent renal cell carcinoma--results from a comprehensive multi-centre database (CORONA/SATURN-Project). BJU Int (2013) 1.60

Regulatory T cells, interleukin (IL)-6, IL-8, vascular endothelial growth factor (VEGF), CXCL10, CXCL11, epidermal growth factor (EGF) and hepatocyte growth factor (HGF) as surrogate markers of host immunity in patients with renal cell carcinoma. BJU Int (2013) 1.58

A RaDiCAL approach to gene discovery. J Med Genet (2011) 1.58

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet (2009) 1.55

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A (2002) 1.51

Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. Am J Clin Nutr (2004) 1.50

Docetaxel, vinorelbine, and zoledronic acid as first-line treatment in patients with hormone refractory prostate cancer: a phase II study. Eur Urol (2007) 1.46

Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med (2008) 1.46

Renal transplantation does not improve erectile function in hemodialysed patients. Eur Urol (2008) 1.45

Correlation between detrusor collagen content and urinary symptoms in patients with prostatic obstruction. J Urol (2004) 1.45

Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44

Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development. Cell (2013) 1.42

Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet (2011) 1.41

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. Mol Genet Metab (2009) 1.40

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. Hum Mutat (2006) 1.35

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet (2002) 1.34

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet (2006) 1.31

Phase II study of sorafenib in patients with sunitinib-refractory metastatic renal cell cancer. J Clin Oncol (2009) 1.27

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (2009) 1.27

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26

Metabolic derangement of methionine and folate metabolism in mice deficient in methionine synthase reductase. Mol Genet Metab (2007) 1.24

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab (2007) 1.23

Cardiomyopathy and carnitine deficiency. Mol Genet Metab (2008) 1.22

Third-line sorafenib after sequential therapy with sunitinib and mTOR inhibitors in metastatic renal cell carcinoma. Eur Urol (2010) 1.20

The detrusor muscle: an innocent victim of bladder outlet obstruction. Eur Urol (2006) 1.20

Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat (2005) 1.20

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet (2013) 1.20

Simple enucleation is equivalent to traditional partial nephrectomy for renal cell carcinoma: results of a nonrandomized, retrospective, comparative study. J Urol (2011) 1.19

Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet (2006) 1.19

Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. J Biol Chem (2010) 1.17

Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab (2006) 1.13

Human methionine synthase reductase is a molecular chaperone for human methionine synthase. Proc Natl Acad Sci U S A (2006) 1.11

Chromophobe renal cell carcinoma (RCC): oncological outcomes and prognostic factors in a large multicentre series. BJU Int (2011) 1.10

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab (2006) 1.10

Biotin is not a natural histone modification. Biochim Biophys Acta (2009) 1.09

Experience over fifteen years with a protocol for predictive testing for Huntington disease. Mol Genet Metab (2010) 1.08

Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. Expert Rev Mol Med (2010) 1.08

Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. Biochim Biophys Acta (2010) 1.07

Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet (2006) 1.06

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06

Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects. Physiol Genomics (2005) 1.05

Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med (2011) 1.04

Polymorphisms in methionine synthase reductase and betaine-homocysteine S-methyltransferase genes: risk of placental abruption. Mol Genet Metab (2007) 1.03

Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab (2012) 1.02

Nonenzymatic biotinylation of histone H2A. Protein Sci (2009) 1.02

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet (2002) 1.02

ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet (2013) 1.01

Elective partial nephrectomy is equivalent to radical nephrectomy in patients with clinical T1 renal cell carcinoma: results of a retrospective, comparative, multi-institutional study. BJU Int (2011) 1.01

Dose finding and early efficacy study of gemcitabine plus capecitabine in combination with bevacizumab plus erlotinib in advanced pancreatic cancer. J Clin Oncol (2009) 1.00

Gemcitabine, cisplatin and methylprednisolone for the treatment of patients with peripheral T-cell lymphoma: the Royal Marsden Hospital experience. Haematologica (2007) 1.00

Team effectiveness in academic primary health care teams. J Interprof Care (2008) 0.99

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation. Am J Kidney Dis (2005) 0.99

Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis (2014) 0.98

Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis (2003) 0.98

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A (2007) 0.98

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97

Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat (2006) 0.97

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat (2004) 0.96

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis (2012) 0.96

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr (2008) 0.95

Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem (2003) 0.95