Published in Arch Dis Child on April 01, 2000
Oxalobacter formigenes may reduce the risk of calcium oxalate kidney stones. J Am Soc Nephrol (2008) 1.82
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter. Am J Physiol Gastrointest Liver Physiol (2010) 1.55
A United States survey on diagnosis, treatment, and outcome of primary hyperoxaluria. Pediatr Nephrol (2003) 1.50
Oxalobacter formigenes and its potential role in human health. Appl Environ Microbiol (2002) 1.49
Diagnosis and metaphylaxis of stone disease. Consensus concept of the National Working Committee on Stone Disease for the upcoming German Urolithiasis Guideline. World J Urol (2005) 1.36
Enteric hyperoxaluria, recurrent urolithiasis, and systemic oxalosis in patients with Crohn's disease. Pediatr Nephrol (2012) 1.21
Intestinal transport of an obdurate anion: oxalate. Urol Res (2004) 1.20
The roles and mechanisms of intestinal oxalate transport in oxalate homeostasis. Semin Nephrol (2008) 1.05
Factors related to colonization with Oxalobacter formigenes in U.S. adults. J Endourol (2011) 1.03
Etiology of nephrocalcinosis in northern Indian children. Pediatr Nephrol (2007) 0.95
Urolithiasis in the first year of life. Pediatr Nephrol (2010) 0.87
Nephropathy in dietary hyperoxaluria: A potentially preventable acute or chronic kidney disease. World J Nephrol (2014) 0.87
Demographic characteristics and metabolic risk factors in Croatian children with urolithiasis. Eur J Pediatr (2013) 0.81
Quantitative analysis of colonization with real-time PCR to identify the role of Oxalobacter formigenes in calcium oxalate urolithiasis. Urol Res (2012) 0.78
Pitfalls in the management of patients with primary hyperoxaluria: a urologist's perspective. Urol Res (2005) 0.75
Predisposing factors for nephrolithiasis and nephrocalcinosis in cystic fibrosis. Iran J Pediatr (2011) 0.75
Gut microbiota and oxalate homeostasis. Ann Transl Med (2017) 0.75
Spontaneous urinary calcium oxalate crystallization in hypercalciuric children. Pediatr Nephrol (2009) 0.75
A prospective study of dietary calcium and other nutrients and the risk of symptomatic kidney stones. N Engl J Med (1993) 5.87
EQUIL2: a BASIC computer program for the calculation of urinary saturation. J Urol (1985) 2.71
Absence of Oxalobacter formigenes in cystic fibrosis patients: a risk factor for hyperoxaluria. Lancet (1998) 1.68
The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria? Nephron (1980) 1.55
Epidemiology of primary hyperoxaluria type 1. Société de Néphrologie and the Société de Néphrologie Pédiatrique. Nephrol Dial Transplant (1995) 1.32
Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol (1993) 1.11
Identification and classification of Oxalobacter formigenes strains by using oligonucleotide probes and primers. J Clin Microbiol (1997) 1.10
Urolithiasis in childhood. Pediatr Clin North Am (1987) 1.09
Primary hyperoxaluria type I. Eur J Pediatr (1990) 1.05
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis (1997) 1.03
Metabolic evaluation of patients with recurrent idiopathic calcium nephrolithiasis. Nephrol Dial Transplant (1997) 0.98
Renal calcium deposition in children: sonographic demonstration of the Anderson-Carr progression. AJR Am J Roentgenol (1986) 0.96
Urinary calcium and oxalate excretion in children. Pediatr Nephrol (1995) 0.95
Urinary oxalate and glycolate excretion in healthy infants and children. Pediatr Nephrol (1990) 0.94
Clinical approach to children with urolithiasis. Semin Nephrol (1996) 0.93
Urinary oxalate and glycolate excretion and plasma oxalate concentration. Arch Dis Child (1991) 0.92
Urinary calcium oxalate saturation in healthy infants and children. J Urol (1997) 0.92
Dietary oxalate and its intestinal absorption. Scanning Microsc (1995) 0.92
Transient hyperoxaluria after ingestion of chocolate as a high risk factor for calcium oxalate calculi. Nephron (1989) 0.91
Primary hyperoxaluria type 2. Eur J Pediatr (1997) 0.88
Urolithiasis in children: current medical management. Pediatr Nephrol (1989) 0.85
Hypocitraturia in patients with urolithiasis. Arch Dis Child (1996) 0.85
Metabolic evaluation of pediatric patients with stones. Urol Clin North Am (1995) 0.83
Study of calcium oxalate crystalluria on renal and vesical urines in stone formers and normal subjects. Urol Int (1998) 0.82
The European Primary Hyperoxaluria Type 1 Transplant Registry report on the results of combined liver/kidney transplantation for primary hyperoxaluria 1984-1994. European PH1 Transplantation Study Group. Nephrol Dial Transplant (1995) 0.82
Enteric and mild hyperoxaluria. Miner Electrolyte Metab (1994) 0.81
Aetiology of nephrolithiasis in north Indian children. Pediatr Nephrol (1995) 0.81
Simultaneous determination of oxalate, glycolate, citrate, and sulfate from dried urine filter paper spots in a pediatric population. Clin Chem (1998) 0.80
[Clinical and chemical factors in kidney calculus formation in childhood. An analysis of 40 patients]. Monatsschr Kinderheilkd (1984) 0.78
Nephrolithiasis in an infant with short-bowel syndrome. Clin Pediatr (Phila) (1994) 0.78
Urolithiasis and enteric hyperoxaluria in a child with steatorrhea. Clin Pediatr (Phila) (1987) 0.78
Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J (2000) 3.91
Nitric oxide synthase is not a constituent of the antimicrobial armature of human mononuclear phagocytes. J Infect Dis (1993) 3.75
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int (2006) 2.64
Anaesthesia for caesarean section in the presence of severe primary pulmonary hypertension. Br J Anaesth (1998) 2.40
Oxalobacter formigenes: a potential tool for the treatment of primary hyperoxaluria type 1. Kidney Int (2006) 2.38
Oxalobacter sp. reduces urinary oxalate excretion by promoting enteric oxalate secretion. Kidney Int (2006) 2.05
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology (2010) 1.88
Paediatric nephrology in countries with limited resources. Pediatr Nephrol (1994) 1.81
Absence of Oxalobacter formigenes in cystic fibrosis patients: a risk factor for hyperoxaluria. Lancet (1998) 1.68
Role of Oxalobacter formigenes in calcium oxalate stone disease: a study from North India. Eur Urol (2002) 1.65
Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome. Clin Sci (Lond) (2002) 1.55
Angiotensin II receptor blocker induced fetopathy: 7 cases. Klin Padiatr (2011) 1.46
Transplantation outcomes in primary hyperoxaluria. Am J Transplant (2010) 1.45
Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia. Heart (2007) 1.45
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Biopterin-dependent hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Neurology (1991) 1.43
Effect of Tribulus terrestris on oxalate metabolism in rats. J Ethnopharmacol (1994) 1.42
The primary hyperoxalurias. J Am Soc Nephrol (2001) 1.42
The neurochemistry of phenylketonuria. Eur J Pediatr (2000) 1.39
Faecal immunoreactive lipase: a simple diagnostic test for cystic fibrosis. Eur J Pediatr (1998) 1.39
Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab (2010) 1.38
Comparison of C-reactive protein and white blood cell count with differential in neonates at risk for septicaemia. Eur J Pediatr (1995) 1.37
Diagnosis and metaphylaxis of stone disease. Consensus concept of the National Working Committee on Stone Disease for the upcoming German Urolithiasis Guideline. World J Urol (2005) 1.36
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet (2001) 1.32
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry (2006) 1.27
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. Biochem Biophys Res Commun (1988) 1.23
Experiences with a compound method for estimating the time since death. I. Rectal temperature nomogram for time since death. Int J Legal Med (2000) 1.21
Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits. Neuropediatrics (2007) 1.20
Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence. J Biol Chem (1993) 1.18
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology (2005) 1.18
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur J Pediatr (1984) 1.14
Myocardial infarction in pregnancy. Int J Cardiol (1988) 1.14
Management of primary hyperoxaluria: efficacy of oral citrate administration. Pediatr Nephrol (1993) 1.11
Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999. Pediatr Nephrol (2001) 1.11
Hyperoxaluria in patients with primary distal renal tubular acidosis. Pediatr Nephrol (2003) 1.09
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. Eur J Pediatr (1995) 1.08
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem (1995) 1.06
New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol (1997) 1.05
Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis (2008) 1.04
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts. Clin Chem (2001) 1.03
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity. Am J Kidney Dis (1997) 1.03
Changing pattern of primary hyperoxaluria in Switzerland. Nephrol Dial Transplant (1995) 1.02
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. Kidney Int (2007) 1.01
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics (2002) 1.01
Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun (1991) 1.01
Reduced folate transport to the CNS in female Rett patients. Neurology (2003) 1.00
Experiences with a compound method for estimating the time since death. II. Integration of non-temperature-based methods. Int J Legal Med (2000) 1.00
Mitochondrial diseases associated with cerebral folate deficiency. Neurology (2008) 0.99
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Neuropediatrics (2007) 0.98
Regulation of the L-arginine-dependent and tetrahydrobiopterin-dependent biosynthesis of nitric oxide in murine macrophages. Eur J Biochem (1993) 0.98
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics (1994) 0.96
Regulation of 6-pyruvoyltetrahydropterin synthase activity and messenger RNA abundance in human vascular endothelial cells. Circulation (1998) 0.96
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann Neurol (1998) 0.95
Treatment of chronic uremia in childhood. II. Hemodialysis. Pediatrics (1970) 0.95
Epidermal H(2)O(2) accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes? J Invest Dermatol (2001) 0.94
Nitric oxide and infection: another view. Clin Infect Dis (1995) 0.94
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet (1994) 0.93
Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease. Nephron (1993) 0.93
Hemolytic-uremic syndrome associated with neuraminidase-producing microorganisms: treatment by exchange transfusion. Helv Paediatr Acta (1980) 0.93
[13C2]oxalate absorption in children with idiopathic calcium oxalate urolithiasis or primary hyperoxaluria. Kidney Int (2008) 0.93
Fatal immune haemolysis due to a degradation product of ceftriaxone. Br J Haematol (1999) 0.93
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol (1998) 0.93
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Am J Hum Genet (1998) 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
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat (1997) 0.93
Pulmonary permeability in coeliac disease and inflammatory bowel disease. Digestion (1989) 0.92
Pyelonephritis and vesicoureteral reflux after renal transplantation in young children. J Urol (1997) 0.92
Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. Neuropediatrics (2007) 0.92
7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins. Eur J Biochem (1992) 0.92
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. J Biol Chem (1995) 0.91
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. J Biol Chem (1999) 0.91
Simultaneous occurrence of the haemolytic uraemic syndrome and acute post-infectious glomerulonephritis. Eur J Pediatr (2001) 0.90
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. Hum Mutat (1998) 0.90
Guanosine triphosphate cyclohydrolase I assay in human and rat liver using high-performance liquid chromatography of neopterin phosphates and guanine nucleotides. Anal Biochem (1983) 0.90
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab (2000) 0.90
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis (2001) 0.89
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab (2004) 0.89
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology (2006) 0.88
6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry. Biochem Biophys Res Commun (1992) 0.87
Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity. Eur J Biochem (1994) 0.87
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet (1998) 0.86
Simple rapid method for the separation and quantitative analysis of carbohydrates in biological fluids. J Chromatogr (1979) 0.86
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clin Chim Acta (1993) 0.86
An epidemic of acute postinfectious glomerulonephritis in Armenia. Arch Dis Child (1997) 0.85
Is there a genotype-phenotype correlation in primary hyperoxaluria type 1? Kidney Int (2006) 0.85
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. Eur J Biochem (1996) 0.85
Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin. J Neurochem (1998) 0.85
7-Substituted pterins. A new class of mammalian pteridines. J Biol Chem (1990) 0.85
Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr (2001) 0.85
Tetrahydrobiopterin as another EDRF in man. Biochem Biophys Res Commun (1994) 0.84
GTP-cyclohydrolases: a review. J Clin Chem Clin Biochem (1985) 0.84
Familial progressive tubulo-interstitial nephropathy and cholestatic liver disease -- a newly recognized entity? Eur J Pediatr (1997) 0.84
Effect of combined supplementation of magnesium oxide and pyridoxine in calcium-oxalate stone formers. Urol Res (1994) 0.84
Interleukin 1 beta and cAMP trigger the expression of GTP cyclohydrolase I in rat renal mesangial cells. Biochem J (1996) 0.83
Unusual painful sclerotic plaques on the legs of a patient with late diagnosis of primary hyperoxaluria type I. Br J Dermatol (2004) 0.83
Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis. Lancet (1986) 0.83
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet (2009) 0.83